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Disease on EC 3.2.1.76 - L-iduronidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adrenoleukodystrophy
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases.
Airway Obstruction
[Hurler syndrome: Early diagnosis and treatment.]
alpha-n-acetylglucosaminidase deficiency
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
Anaphylaxis
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Blindness
AAV Gene Therapy for MPS1-associated Corneal Blindness.
Brain Diseases
Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain.
Bronchitis
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
Cardiomyopathies
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Cardiovascular Abnormalities
Hurler's disease.
Central Nervous System Diseases
Mucopolysaccharidosis type I.
Prediction of neuropathology in mucopolysaccharidosis I patients.
Corneal Opacity
Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva.
Coronary Stenosis
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Deficiency Diseases
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I).
Dentigerous Cyst
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).
Fabry Disease
Lysosomal storage diseases.
The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.
[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]
Friedreich Ataxia
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
Fucosidosis
Fucosidosis in a native-born Briton.
Gaucher Disease
Lysosomal storage diseases.
Genetic Diseases, Inborn
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Characterization and downstream mannose phosphorylation of human recombinant ?-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.
Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots.
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.
Gingival Hypertrophy
[Hurler syndrome: Early diagnosis and treatment.]
Glioma
Lipoprotein receptor binding, cellular uptake, and lysosomal delivery of fusions between the receptor-associated protein (RAP) and alpha-L-iduronidase or acid alpha-glucosidase.
Glycogen Storage Disease
Common antigenicity for two glycosidases.
Glycogen Storage Disease Type II
Common antigenicity for two glycosidases.
Lysosomal storage diseases.
Hearing Disorders
The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis.
Heart Diseases
High-dose enzyme replacement therapy in murine Hurler syndrome.
Heart Valve Diseases
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
Hepatomegaly
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
High-dose enzyme replacement therapy in murine Hurler syndrome.
Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy.
[Enzyme replacement therapies for lysosomal storage disorders.]
[Hurler syndrome: Early diagnosis and treatment.]
Huntington Disease
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Hydrocephalus
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Hypersensitivity
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.
Laronidase hypersensitivity and desensitization in type I mucopolysaccharidosis: a case report.
Intellectual Disability
First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
Hurler's disease.
Joint Diseases
High-dose enzyme replacement therapy in murine Hurler syndrome.
l-iduronidase deficiency
A canine model of human alpha-L-iduronidase deficiency.
A new phenotypic variant of alpha-L-iduronidase deficiency.
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Clinical, pathologic, and biochemical findings.
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I.
alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate.
Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.
Cardiac manifestations in the mouse model of mucopolysaccharidosis I.
Characteristics of leukocyte and plasma methylumbelliferyl-alpha-L-iduronide iduronidase.
Chemical definition of the mucopolysaccharidoses.
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.
Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide.
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells.
Gene therapy for canine alpha-L-iduronidase deficiency: in utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease.
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
Hurler's disease.
Hurler's syndromes without alpha-L-iduronidase deficiency.
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies.
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice.
Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.
Laronidase.
Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.
Letter: Phenotypic variation in alpha-L-iduronidase deficiency.
Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome).
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.
Microtest for determination of alpha-L-iduronidase in plasma and leucocytes and its potential for diagnosing alpha-L-iduronidase deficiency.
Morphologic and biochemical studies of canine mucopolysaccharidosis I.
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I).
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model.
Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate.
Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.
Proceedings: Alpha-L-iduronidase deficiency associated with chondroitin sulphate mucopolysaccharidosis.
Radiologic nosology of bone dysplasias.
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.
The clinical spectrum of alpha-L-iduronidase deficiency.
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).
Tissue and cellular distribution of alpha-L-iduronidase in the pig.
Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.
Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.
Variation in neuronal storage in alpha-L-iduronidase deficiency.
[Extensive Mongolian spot related to Hurler disease]
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]
[Mucopolysaccharidosis type I in the Cuban population]
[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]
[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]
[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype]
[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease]
Liver Cirrhosis
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
Lung Diseases, Obstructive
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.
Lysosomal Storage Diseases
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
A Self-inactivating gamma-Retroviral Vector Reduces Manifestations of Mucopolysaccharidosis I in Mice.
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis.
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology.
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.
Characterization and downstream mannose phosphorylation of human recombinant ?-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study.
Enzyme-replacement therapy in mucopolysaccharidosis I.
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Immune response hinders therapy for lysosomal storage diseases.
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice.
In vivo delivery of human alpha-L-iduronidase in mice implanted with neo-organs.
Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I.
Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice.
Macular Degeneration
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Meningioma
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Meningiomas in young cats with mucopolysaccharidosis I.
Metabolic Diseases
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets.
Micrognathism
Sleep apnoea in Scheie's syndrome.
Mucolipidoses
Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Lymphoblastoid cell lines, transformed by Epstein-Barr virus, in the enzymatic study of hereditary lysosomal storage diseases.
Mucopolysaccharidoses
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
A homology model for human alpha-l-iduronidase: insights into human disease.
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
Age-related functional and histopathological changes of the ear in the MPS I mouse.
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate.
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
alpha-L-iduronidase therapy for mucopolysaccharidosis type I.
alpha-L-Iduronidase transport in neurites.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Analysis of male reproductive parameters in a murine model of mucopolysaccharidosis type I (MPS I).
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology.
Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-l-iduronidase (laronidase).
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome.
Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations.
Biomechanical and histological characterization of MPS I mice femurs.
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I.
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I.
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling.
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
Characterization and downstream mannose phosphorylation of human recombinant ?-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds.
Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy.
Clinical manifestation of Hurler syndrome in a 7 year old child.
Co-expression of MGMT(P140K) and alpha-L-iduronidase in primary hepatocytes from mucopolysaccharidosis type I mice enables efficient selection with metabolic correction.
Common antigenicity for two glycosidases.
Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I.
Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies.
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene.
Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type i.
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.
Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I.
Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase.
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.
Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of alpha-L-iduronidase in immunized rats.
Enzyme replacement therapy in mucopolysaccharidosis type I.
Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties.
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice.
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I.
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice.
Evidence of lysosomal membrane permeabilization in mucopolysaccharidosis type I: rupture of calcium and proton homeostasis.
Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model.
Fluorometric measurement of urinary alpha-L-iduronidase activity.
Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.
Gene therapy for canine alpha-L-iduronidase deficiency: in utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease.
Gene therapy of the brain in the dog model of Hurler's syndrome.
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I.
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
Glycosidase active site mutations in human alpha-L-iduronidase.
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein.
Hurler's disease.
Hurler-Scheie syndrome in Niger: a case series.
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
IgG-enzyme fusion protein: pharmacokinetics and anti-drug antibody response in rhesus monkeys.
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice.
Improved Reagents for Newborn Screening of Mucopolysaccharidosis-I, II and VI by Tandem Mass Spectrometry.
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system.
Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model.
Inhibition of iduronic acid biosynthesis by ebselen reduces GAG accumulation in MPS-I fibroblasts.
Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice.
Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice.
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10.
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.
Laronidase for the treatment of mucopolysaccharidosis type I.
Laronidase for treating mucopolysaccharidosis type I.
Laronidase for treating post-surgical respiratory failure in a patient with type I mucopolysaccharidosis.
Laronidase hypersensitivity and desensitization in type I mucopolysaccharidosis: a case report.
Laronidase treatment of mucopolysaccharidosis I.
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication.
Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome).
Limited transgene immune response and long-term expression of human alpha-L-iduronidase in young adult mice with mucopolysaccharidosis type I by liver-directed gene therapy.
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.
Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I.
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia.
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin.
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Mucopolysaccharidosis type I.
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Mucopolysaccharidosis type I: Unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-L-iduronidase.
Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence.
Murine alpha-L-iduronidase: cDNA isolation and expression.
Murine MPS I: insights into the pathogenesis of Hurler syndrome.
Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene.
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.
Mutational Analysis of the alpha-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms.
Mutations among Italian mucopolysaccharidosis type I patients.
Myoblast gene therapy in canine mucopolysaccharidosis. I: Abrogation by an immune response to alpha-L-iduronidase.
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model.
Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector.
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I).
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model.
Prevention of neuropathology in the mouse model of Hurler syndrome.
Proceedings: Alpha-L-iduronidase deficiency associated with chondroitin sulphate mucopolysaccharidosis.
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity.
Quantitative analysis of ?-L-iduronidase expression in immunocompetent mice treated with the Sleeping Beauty transposon system.
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.
Retroviral vector design studies toward hematopoietic stem cell gene therapy for mucopolysaccharidosis type I.
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice.
Sleep apnoea in Scheie's syndrome.
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.
Structural determination of oligosaccharides from recombinant iduronidase released with peptide N-glycanase F using fluorophore-assisted carbohydrate electrophoresis.
Structure and sequence of the human alpha-L-iduronidase gene.
Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.
Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome.
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.
Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product.
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.
The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis.
The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I.
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.
Transcriptional activity of the CD45 gene promoter in retroviral vector constructs.
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation.
Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.
[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I]
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]
[In Process Citation].
[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families.]
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type.]
Mucopolysaccharidosis I
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
A canine model of human alpha-L-iduronidase deficiency.
A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses.
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.
A homology model for human alpha-l-iduronidase: insights into human disease.
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
A new phenotypic variant of alpha-L-iduronidase deficiency.
A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.
A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
A Self-inactivating gamma-Retroviral Vector Reduces Manifestations of Mucopolysaccharidosis I in Mice.
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
Age-related functional and histopathological changes of the ear in the MPS I mouse.
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome.
Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.
alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Clinical, pathologic, and biochemical findings.
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I.
alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate.
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
alpha-L-iduronidase therapy for mucopolysaccharidosis type I.
alpha-L-Iduronidase transport in neurites.
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Angiotensin receptor blockade mediated amelioration of mucopolysaccharidosis type I cardiac and craniofacial pathology.
Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
Anthropometric data of 14 patients with mucopolysaccharidosis I: Retrospective analysis and efficacy of recombinant human alpha-l-iduronidase (laronidase).
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome.
Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantation.
Biomechanical and histological characterization of MPS I mice femurs.
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.
Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells.
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I.
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I.
Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome.
Cardiac manifestations in the mouse model of mucopolysaccharidosis I.
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling.
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme).
Characteristics of leukocyte and plasma methylumbelliferyl-alpha-L-iduronide iduronidase.
Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy.
Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.
Clinical manifestation of Hurler syndrome in a 7 year old child.
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation.
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog.
Co-expression of MGMT(P140K) and alpha-L-iduronidase in primary hepatocytes from mucopolysaccharidosis type I mice enables efficient selection with metabolic correction.
Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.
Common antigenicity for two glycosidases.
Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I.
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
Comparison of Endovascular and Intraventricular Gene Therapy with AAV5-IDUA for Hurler's Disease.
Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies.
Comparison of the substrate 4-methylumbelliferyl-alpha-l-iduronide with phenyl-alpha-L-iduronide for the diagnosis of Hurler's disease in cultured cells.
Corneal opacity in canine MPS I. Changes after bone marrow transplantation.
Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin.
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy.
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene.
Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase.
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study.
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type i.
Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis.
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.
Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I.
Effect of neonatal administration of a retroviral vector expressing alpha-L-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice.
Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase.
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.
Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S).
Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene.
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up.
Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of alpha-L-iduronidase in immunized rats.
Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties.
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).
Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I.
Enzyme-replacement therapy in mucopolysaccharidosis I.
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
Evidence of lysosomal membrane permeabilization in mucopolysaccharidosis type I: rupture of calcium and proton homeostasis.
Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model.
Fluorometric assay of alpha-L-iduronidase in serum for detection of affected and carrier animals in a canine model of mucopolysaccharidosis I.
Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide.
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells.
Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.
Gene therapy for canine alpha-L-iduronidase deficiency: in utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease.
Gene therapy of the brain in the dog model of Hurler's syndrome.
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I.
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.
Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase.
Glycosidase active site mutations in human alpha-L-iduronidase.
Guanidinylated Neomycin Conjugation Enhances Intranasal Enzyme Replacement in the Brain.
Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler.
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.
Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution.
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Hurler syndrome with special reference to histologic abnormalities of the growth plate.
Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein.
Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.
Hurler syndrome: orofacial, dental, and skeletal findings of a case.
Hurler's disease.
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets.
Hurler's syndromes without alpha-L-iduronidase deficiency.
Hurler-Scheie syndrome in Niger: a case series.
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots.
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
IgG-enzyme fusion protein: pharmacokinetics and anti-drug antibody response in rhesus monkeys.
Immune response hinders therapy for lysosomal storage diseases.
Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation.
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I.
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.
Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies.
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Impaired Hematopoiesis and Disrupted Monocyte/Macrophage Homeostasis in Mucopolysaccharidosis Type I Mice.
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice.
Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation.
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system.
Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model.
Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice.
Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice.
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.
Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid.
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10.
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I.
Laronidase desensitization during stem cell transplant in a child with Hurler syndrome.
Laronidase for cardiopulmonary disease in hurler syndrome 12 years after bone marrow transplantation.
Laronidase for the treatment of mucopolysaccharidosis type I.
Laronidase for treating mucopolysaccharidosis type I.
Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I.
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
Laronidase treatment of mucopolysaccharidosis I.
Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.
Laronidase.
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: Comment on pathogenesis of a novel complication.
Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.
Letter: Phenotypic variation in alpha-L-iduronidase deficiency.
Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.
Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature.
Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome).
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.
Limited transgene immune response and long-term expression of human alpha-L-iduronidase in young adult mice with mucopolysaccharidosis type I by liver-directed gene therapy.
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Lipid Composition of Whole Brain and Cerebellum in Hurler Syndrome (MPS IH) Mice.
Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice.
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.
Lymphoblastoid cell lines, transformed by Epstein-Barr virus, in the enzymatic study of hereditary lysosomal storage diseases.
Lysosomal storage diseases.
Lysosomes and the sclerotic arterial lesion in Hurler's disease.
Meningiomas in young cats with mucopolysaccharidosis I.
Microtest for determination of alpha-L-iduronidase in plasma and leucocytes and its potential for diagnosing alpha-L-iduronidase deficiency.
Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I.
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Morphologic and biochemical studies of canine mucopolysaccharidosis I.
Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia.
Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig.
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin.
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
Mucopolysaccharidosis type I.
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Mucopolysaccharidosis type I: Unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-L-iduronidase.
Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence.
Murine alpha-L-iduronidase: cDNA isolation and expression.
Murine MPS I: insights into the pathogenesis of Hurler syndrome.
Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene.
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.
Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome.
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Mutational Analysis of the alpha-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms.
Mutations among Italian mucopolysaccharidosis type I patients.
N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.
Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model.
Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector.
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice.
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I).
New phenotype of adult alpha-L-iduronidase deficiency (mucopolysaccharidosis I) masquerading as Friedreich's ataxia with cardiopathy.
Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase.
Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience.
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
Outcome of second hematopoietic cell transplantation in Hurler syndrome.
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells.
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model.
Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate.
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.
Preclinical testing of the safety and tolerability of LV-mediated above normal alpha-L-iduronidase expression in murine and human hematopoietic cells using toxicology and biodistribution GLP studies.
Prediction of neuropathology in mucopolysaccharidosis I patients.
Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.
Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.
Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.
Prenatal exclusion of Hurler's disease by leucocyte alpha-L-iduronidase assay.
Prevention of neuropathology in the mouse model of Hurler syndrome.
Proceedings: Alpha-L-iduronidase deficiency associated with chondroitin sulphate mucopolysaccharidosis.
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity.
Quantitative analysis of ?-L-iduronidase expression in immunocompetent mice treated with the Sleeping Beauty transposon system.
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy.
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
Real-world data assessment of safety of home-based and hospital/outpatient-based laronidase enzyme replacement therapy for mucopolysaccharidosis I.
Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.
Report of a mucopolysaccharidosis occurring in Australian aborigines.
Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy.
Retrovirus-mediated transfer of the human alpha-L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice.
Simplied assay method of alpha-L-iduronidase activity in leukocytes for detection of Hurler syndrome and its carriers.
Sleep apnoea in Scheie's syndrome.
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.
Structure and sequence of the human alpha-L-iduronidase gene.
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I.
Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.
Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome.
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I.
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.
Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product.
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
The clinical spectrum of alpha-L-iduronidase deficiency.
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.
The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts.
The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Tissue and cellular distribution of alpha-L-iduronidase in the pig.
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.
Transcriptional activity of the CD45 gene promoter in retroviral vector constructs.
Transplantation of amniotic epithelial membranes in patients with mucopolysaccharidoses.
Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow.
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation.
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression.
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice.
Uptake of a recombinant human alpha-L-iduronidase (laronidase) by cultured fibroblasts and osteoblasts.
Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.
Variant of iduronidase deficient mucopolysaccharidoses: further evidence for genetic heterogeneity.
Variation in neuronal storage in alpha-L-iduronidase deficiency.
[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I]
[Alpha-L-iduronidase activity in fibroblasts of patients with Hurler syndrome]
[Extensive Mongolian spot related to Hurler disease]
[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]
[Fluorometric determination of alpha-L-iduronidase activity in leukocytes and blood plasma in Hurler's disease]
[Gene therapy in lysosomal diseases]
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]
[Hurler's syndrome--early clinical suspicion]
[Mucopolysaccharidosis type I in the Cuban population]
[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study]
[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families.]
[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type.]
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]
[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]
[Psychotic symptoms during the evolution of dementia in muco- polysaccharidosis of Hurler-Scheie phenotype]
[Rhinosinusitis in Hurler syndrome patients requiring hematopoietic stem cells transplantation].
[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease]
Mucopolysaccharidosis II
alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome.
Mucopolysaccharidosis III
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
Mucopolysaccharidosis IV
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
Lysosomal storage diseases.
Muscle Hypotonia
[Hurler syndrome: Early diagnosis and treatment.]
Neoplasms
Physical activity is associated with a large number of cardiovascular-specific proteins: Cross-sectional analyses in two independent cohorts.
Neurologic Manifestations
Gene therapy of the brain in the dog model of Hurler's syndrome.
Osteoporosis
Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis.
Pregnancy, High-Risk
Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
Proteinuria
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.
Respiratory Insufficiency
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
Laronidase for treating post-surgical respiratory failure in a patient with type I mucopolysaccharidosis.
Sandhoff Disease
Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.
Spinal Cord Compression
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Spinal Stenosis
Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.