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Results 1 - 7 of 7 for peroxisomal biogenesis disorder
  1. PEX1 gene 
    ... 3. Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107- ...
    https://medlineplus.gov/genetics/gene/pex1 - Genetics
  2. PEX7 gene 
    ... a small percentage of all cases of Refsum disease. The three mutations known to be responsible for this condition reduce the activity of peroxisomal biogenesis factor 7, which disrupts the import of several ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. ABCD1 gene 
    ... 31. Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107- ...
    https://medlineplus.gov/genetics/gene/abcd1 - Genetics
  4. Zellweger spectrum disorder 
    ... NBK1448/ Citation on PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107- ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  5. AGPS gene 
    ... dihydroxyacetone phosphate synthase alkyldihydroxyacetone phosphate synthetase alkyldihydroxyacetonephosphate synthase, peroxisomal ... Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a ...
    https://medlineplus.gov/genetics/gene/agps - Genetics
  6. 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
  7. Zellweger Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... belongs to a group of diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of the PEX genes that are required for the normal formation and ...
    https://www.ninds.nih.gov/.../disorders/zellweger-syndrome - External Health Links