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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. Zellweger Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... syndrome 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
  6. 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
  7. 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
  8. 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
  9. Refsum Disease, Infantile From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), which are inherited genetic disorders that damage the white matter of the brain and affect motor ...
    https://www.ninds.nih.gov/.../disorders/refsum-disease-infantile - External Health Links