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Results 1 - 7 of 7 for Peroxisomal disorder
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  1. Peroxisomal acyl-CoA oxidase deficiency 
    ... CoA OXIDASE DEFICIENCY PubMed Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin Neurol. 2013;113:1593-609. doi: ... Poll-The BT. Clinical and Laboratory Diagnosis of Peroxisomal Disorders. Methods Mol Biol. 2017;1595:329-342. doi: ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  2. Refsum disease 
    ... Feher MD, Gibberd FB. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem. 2002 ... 2002.00766.x. Citation on PubMed Wierzbicki AS. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochem ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  3. Zellweger spectrum disorder 
    ... NBK1448/ Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  4. Alpha-methylacyl-CoA racemase deficiency 
    ... or Free article on PubMed Central Wierzbicki AS. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochem ...
    https://medlineplus.gov/.../alpha-methylacyl-coa-racemase-deficiency - Genetics
  5. D-bifunctional protein deficiency 
    ... syndrome Zellweger-like syndrome Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency Bifunctional enzyme deficiency National Organization for Rare Disorders (NORD) ClinicalTrials.gov D-BIFUNCTIONAL PROTEIN DEFICIENCY PubMed ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  6. Primary hyperoxaluria 
    ... Hepatic AGT deficiency Hyperoxaluria, primary Oxalosis Oxaluria, primary Peroxisomal alanine:glyoxylate aminotransferase ... ClinicalTrials.gov HYPEROXALURIA, PRIMARY, TYPE I; HP1 ...
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria - Genetics
  7. Malonyl-CoA decarboxylase deficiency 
    ... CoA decarboxylase Malonic aciduria ... JC, Wanders RJ, Matalon R, Gould SJ. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and ...
    https://medlineplus.gov/.../malonyl-coa-decarboxylase-deficiency - Genetics