Disease on EC 1.14.11.18 - phytanoyl-CoA dioxygenase
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Adrenoleukodystrophy
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Chondrodysplasia Punctata, Rhizomelic
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Dementia
Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease.
Lupus Nephritis
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
Neoplasms
Identification of key genes in invasive clinically non-functioning pituitary adenoma by integrating analysis of DNA methylation and mRNA expression profiles.
Parkinson Disease
Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease.
Peroxisomal Disorders
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]
phytanoyl-coa dioxygenase deficiency
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
phytanoyl-coa dioxygenase deficiency
Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
phytanoyl-coa dioxygenase deficiency
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
phytanoyl-coa dioxygenase deficiency
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.
Refsum Disease
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Refsum Disease
Characterization of phytanic acid omega-hydroxylation in human liver microsomes.
Refsum Disease
CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease.
Refsum Disease
Dual-specificity tyrosine-phosphorylated and regulated kinase 1A (DYRK1A) interacts with the phytanoyl-CoA alpha-hydroxylase associated protein 1 (PAHX-AP1), a brain specific protein.
Refsum Disease
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Refsum Disease
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Refsum Disease
Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.
Refsum Disease
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
Refsum Disease
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
Refsum Disease
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Refsum Disease
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Refsum Disease
Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease.
Refsum Disease
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Refsum Disease
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Refsum Disease
Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
Refsum Disease
Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
Refsum Disease
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
Refsum Disease
The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.
Zellweger Syndrome
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.
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