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Results 1 - 10 of 10 for Peroxisomal disorder
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  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):107-33. doi: 10.1111/j.1399-0004.2004.00329.x. Citation on PubMed
    https://medlineplus.gov/genetics/gene/pex1 - Genetics
  2. 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
  3. 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
  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. 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
  6. PEX7 gene 
    The PEX7 gene provides instructions for making a protein called peroxisomal biogenesis factor 7, which is part of a group known as the peroxisomal assembly ( ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  7. HSD17B4 gene 
    ... third steps, respectively, of a process called the peroxisomal fatty acid beta-oxidation ... disorder that causes deterioration of nervous system functions (neurodegeneration) ...
    https://medlineplus.gov/genetics/gene/hsd17b4 - Genetics
  8. IDH1 gene 
    ... IDH1 gene mutations can result in these various disorders. More About This Health Condition ... PubMed GLIOMA ...
    https://medlineplus.gov/genetics/gene/idh1 - Genetics
  9. ABCD4 gene 
    ... cblJ type, which is one form of a disorder that causes developmental delay, eye ... 69 kDa peroxisomal ABC-transporter ABC41 ATP-binding cassette sub-family ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  10. MLYCD gene 
    ... energy, which leads to characteristic features of this disorder including low blood glucose (hypoglycemia) and a heart ... Wanders RJ, Matalon R, Gould SJ. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and ...
    https://medlineplus.gov/genetics/gene/mlycd - Genetics