Disease on EC 3.4.14.9 - tripeptidyl-peptidase I
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Amyotrophic Lateral Sclerosis
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Ataxia
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease).
Bone Resorption
Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption.
Brain Injuries
[A primary study on the ARP-SRP gene expression profiling of brain injury by cDNA microarray]
Breast Neoplasms
A lysosomal pepstatin-insensitive proteinase as a novel biomarker for breast carcinoma.
Bulbo-Spinal Atrophy, X-Linked
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Carcinoma
Significance and prognostic value of lysosomal enzyme activities measured in surgically operated adenocarcinomas of the gastroesophageal junction and squamous cell carcinomas of the lower third of esophagus.
Carcinoma, Squamous Cell
Significance and prognostic value of lysosomal enzyme activities measured in surgically operated adenocarcinomas of the gastroesophageal junction and squamous cell carcinomas of the lower third of esophagus.
Cysts
The lysosomal aminopeptidase tripeptidyl peptidase 1 displays increased activity in malignant pancreatic cysts.
Dementia
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Epilepsy
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease).
Epilepsy
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
Epilepsy
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Gangliosidoses, GM2
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
Genetic Diseases, Inborn
Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis.
Genetic Diseases, Inborn
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification.
Genetic Diseases, Inborn
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Heredodegenerative Disorders, Nervous System
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.
Heredodegenerative Disorders, Nervous System
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.
Huntington Disease
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Lysosomal Storage Diseases
Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Multiparametric MR Imaging.
Lysosomal Storage Diseases
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.
Lysosomal Storage Diseases
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I.
Lysosomal Storage Diseases
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Lysosomal Storage Diseases
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2.
Lysosomal Storage Diseases
The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis.
Lysosomal Storage Diseases
The specificity of lysosomal tripeptidyl peptidase-I determined by its action on angiotensin-II analogues.
Melanoma
Impact of Gln94Glu mutation on the structure and function of protection of telomere 1, a cause of cutaneous familial melanoma.
Muscular Atrophy
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neoplasms
A lysosomal pepstatin-insensitive proteinase as a novel biomarker for breast carcinoma.
Neoplasms
Purification and characterization of a tripeptidyl peptidase I from human osteoclastomas: evidence for its role in bone resorption.
Nervous System Diseases
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
Neuroblastoma
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neurodegenerative Diseases
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
Neurodegenerative Diseases
A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium.
Neurodegenerative Diseases
A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.
Neurodegenerative Diseases
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
Neurodegenerative Diseases
Analysis of catalytic properties of tripeptidyl peptidase I (TTP-I), a serine carboxyl lysosomal protease, and its detection in tissue extracts using selective FRET peptide substrate.
Neurodegenerative Diseases
Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2).
Neurodegenerative Diseases
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease.
Neurodegenerative Diseases
Clinical Pharmacokinetics and Pharmacodynamics of Cerliponase Alfa, Enzyme Replacement Therapy for CLN2 Disease by Intracerebroventricular Administration.
Neurodegenerative Diseases
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.
Neurodegenerative Diseases
Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates.
Neurodegenerative Diseases
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Neurodegenerative Diseases
Dipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
Neurodegenerative Diseases
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice.
Neurodegenerative Diseases
Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis but is not a component of the storage material.
Neurodegenerative Diseases
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis.
Neurodegenerative Diseases
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Specific substrate for CLN2 protease/tripeptidyl-peptidase I assay.
Neurodegenerative Diseases
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
Neurodegenerative Diseases
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neurodegenerative Diseases
Tripeptidyl peptidase-I is essential for the degradation of sulphated cholecystokinin-8 (CCK-8S) by mouse brain lysosomes.
Neuronal Ceroid-Lipofuscinoses
A Basic ApoE-Based Peptide Mediator to Deliver Proteins across the Blood-Brain Barrier: Long-Term Efficacy, Toxicity, and Mechanism.
Neuronal Ceroid-Lipofuscinoses
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
Neuronal Ceroid-Lipofuscinoses
A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium.
Neuronal Ceroid-Lipofuscinoses
AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
Neuronal Ceroid-Lipofuscinoses
AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.
Neuronal Ceroid-Lipofuscinoses
An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
Neuronal Ceroid-Lipofuscinoses
Aorsin, a novel serine proteinase with trypsin-like specificity at acidic pH.
Neuronal Ceroid-Lipofuscinoses
Autism, Epilepsy, and Neuroregression: Photosensitivity on Electroencephalography Solved the Riddle.
Neuronal Ceroid-Lipofuscinoses
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease).
Neuronal Ceroid-Lipofuscinoses
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease.
Neuronal Ceroid-Lipofuscinoses
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I.
Neuronal Ceroid-Lipofuscinoses
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
Neuronal Ceroid-Lipofuscinoses
Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.
Neuronal Ceroid-Lipofuscinoses
Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates.
Neuronal Ceroid-Lipofuscinoses
Developmental study of tripeptidyl peptidase I activity in the mouse central nervous system and peripheral organs.
Neuronal Ceroid-Lipofuscinoses
Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS.
Neuronal Ceroid-Lipofuscinoses
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Neuronal Ceroid-Lipofuscinoses
Dipeptidyl-peptidase I does not functionally compensate for the loss of tripeptidyl-peptidase I in the neurodegenerative disease late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
Neuronal Ceroid-Lipofuscinoses
Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product.
Neuronal Ceroid-Lipofuscinoses
Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a Peptide that mediates delivery to the brain.
Neuronal Ceroid-Lipofuscinoses
Enhanced Survival of the LINCL Mouse Following CLN2 Gene Transfer Using the rh.10 Rhesus Macaque-derived Adeno-associated Virus Vector.
Neuronal Ceroid-Lipofuscinoses
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays.
Neuronal Ceroid-Lipofuscinoses
Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi.
Neuronal Ceroid-Lipofuscinoses
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
Neuronal Ceroid-Lipofuscinoses
Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.
Neuronal Ceroid-Lipofuscinoses
Gemfibrozil and fenofibrate, FDA-approved lipid-lowering drugs, upregulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor-a: implications for late infantile neuronal ceroid lipofuscinosis therapy.
Neuronal Ceroid-Lipofuscinoses
Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice.
Neuronal Ceroid-Lipofuscinoses
Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis but is not a component of the storage material.
Neuronal Ceroid-Lipofuscinoses
Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model.
Neuronal Ceroid-Lipofuscinoses
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
Neuronal Ceroid-Lipofuscinoses
Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
Neuronal Ceroid-Lipofuscinoses
Long Term Expression and Safety of Administration of AAVrh.10hCLN2 to the Brain of Rats and Non-human Primates for the Treatment of Late Infantile Neuronal Lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Lysosomal protein thermal stability does not correlate with cellular half-life: global observations and a case study of tripeptidyl-peptidase 1.
Neuronal Ceroid-Lipofuscinoses
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Neuronal Ceroid-Lipofuscinoses
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Neuronal Ceroid-Lipofuscinoses
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Neuronal Ceroid-Lipofuscinoses
Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
Neuronal Ceroid-Lipofuscinoses
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Neuronal Ceroid-Lipofuscinoses
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses.
Neuronal Ceroid-Lipofuscinoses
Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease.
Neuronal Ceroid-Lipofuscinoses
Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities.
Neuronal Ceroid-Lipofuscinoses
Production and characterization of recombinant human CLN2 protein for enzyme-replacement therapy in late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Neuronal Ceroid-Lipofuscinoses
Safety of Direct Administration of AAV2(CU)hCLN2, a Candidate Treatment for the Central Nervous System Manifestations of Late Infantile Neuronal Ceroid Lipofuscinosis, to the Brain of Rats and Nonhuman Primates.
Neuronal Ceroid-Lipofuscinoses
Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates.
Neuronal Ceroid-Lipofuscinoses
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2.
Neuronal Ceroid-Lipofuscinoses
Specific substrate for CLN2 protease/tripeptidyl-peptidase I assay.
Neuronal Ceroid-Lipofuscinoses
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
Neuronal Ceroid-Lipofuscinoses
Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification.
Neuronal Ceroid-Lipofuscinoses
The expression of tripeptidyl peptidase I in various tissues of rats and mice.
Neuronal Ceroid-Lipofuscinoses
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.
Neuronal Ceroid-Lipofuscinoses
The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
The specificity of lysosomal tripeptidyl peptidase-I determined by its action on angiotensin-II analogues.
Neuronal Ceroid-Lipofuscinoses
Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease.
Neuronal Ceroid-Lipofuscinoses
Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase.
Neuronal Ceroid-Lipofuscinoses
Tripeptidyl peptidase-I is essential for the degradation of sulphated cholecystokinin-8 (CCK-8S) by mouse brain lysosomes.
Neuronal Ceroid-Lipofuscinoses
Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.
Neuronal Ceroid-Lipofuscinoses
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
Neuronal Ceroid-Lipofuscinoses
Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis.
Neuronal Ceroid-Lipofuscinoses
Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPAR?: Implications for late-infantile Batten disease therapy.
Neuronal Ceroid-Lipofuscinoses
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
Neuronal Ceroid-Lipofuscinoses
Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system.
Neuronal Ceroid-Lipofuscinoses
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]
Pancreatic Cyst
The lysosomal aminopeptidase tripeptidyl peptidase 1 displays increased activity in malignant pancreatic cysts.
Parkinson Disease
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Seizures
Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-I to the mouse central nervous system.
Spinocerebellar Ataxias
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
tripeptidyl-peptidase i deficiency
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.
tripeptidyl-peptidase i deficiency
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.
tripeptidyl-peptidase i deficiency
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
tripeptidyl-peptidase i deficiency
Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).
tripeptidyl-peptidase i deficiency
Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity.
tripeptidyl-peptidase i deficiency
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]
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