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Results 1 - 10 of 10 for Hyperpipecolatemia
  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. Patient support and advocacy groups 
    ... Support International Glaucoma Research Foundation Global Foundation for Peroxisomal Disorders GLUT1 Deficiency Foundation Gluten Intolerance Group Gorlin Syndrome ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  4. ABCD1 gene 
    ... 31. Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ...
    https://medlineplus.gov/genetics/gene/abcd1 - Genetics
  5. 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
  6. AGPS gene 
    ... Lecoutere D. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. J Inherit Metab Dis. 1994;17(3):315- ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  7. 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
  8. AMACR gene 
    ... or Free article on PubMed Central Wierzbicki AS. Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. Biochem ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  9. PEX1 gene 
    ... 3. Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. ...
    https://medlineplus.gov/genetics/gene/pex1 - Genetics
  10. GNPAT gene 
    ... Tager JM. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. J Inherit Metab Dis. 1992;15(3):389- ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics