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Results 1 - 9 of 9 for Peroxisome biogenesis disorder
Did you mean peroxisomal biogenesis disorder?
  1. PEX1 gene 
    ... to form. More About This Health Condition peroxin1 peroxisome biogenesis disorder protein 1 PEX1_HUMAN Pex1p ZWS1 Tests of ... PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat. 2005 Sep;26(3):167-75. ...
    https://medlineplus.gov/genetics/gene/pex1 - Genetics
  2. PEX7 gene 
    ... for this condition reduce the activity of peroxisomal biogenesis factor 7, ... disease, a shortage of phytanoyl-CoA hydroxylase prevents peroxisomes ...
    https://medlineplus.gov/genetics/gene/pex7 - Genetics
  3. GNPAT gene 
    The GNPAT gene provides instructions for making an enzyme known as glyceronephosphate O-acyltransferase (GNPAT) or dihydroxyacetonephosphate acyltransferase ( ...
    https://medlineplus.gov/genetics/gene/gnpat - Genetics
  4. Zellweger spectrum disorder 
    ... of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  5. ABCD1 gene 
    ... HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. ...
    https://medlineplus.gov/genetics/gene/abcd1 - Genetics
  6. AGPS gene 
    ... den 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
  7. Rhizomelic chondrodysplasia punctata 
    ... Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733- ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  8. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../disorders/leukodystrophy - External Health Links
  9. Adult Refsum disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../leukodystrophy#refsum-disease-adult - External Health Links