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mcad gene知識摘要

(共計:20)
  • MCAD deficiency - Genetics Home Reference
    What genes are related to MCAD deficiency? Mutations in the ACADM gene cause MCAD deficiency. This gene provides ...

  • ACADM - Genetics Home Reference - National Institutes of Health
    The ACADM gene provides instructions for making an enzyme called medium- chain acyl-CoA dehydrogenase (MCAD). This enzyme functions within ...

  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ...
    19 Jan 2012 ... Because asymptomatic parents and sibs may have MCAD deficiency, biochemical evaluation and/or molecular genetic testing should be ...

  • Mutations in the medium chain acyl-CoA dehydrogenase (MCAD ...
    Hum Mutat. 1992;1(4):271-9. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Tanaka K(1), Yokota I, Coates PM, Strauss AW, Kelly DP, ...

  • MCADD . What - NEWBORN SCREENING
    What causes the MCAD enzyme to be absent or not working correctly? .... Because of the changes in this pair of genes, the MCAD enzyme either does not work ...

  • Medium-chain acyl-coenzyme A dehydrogenase ... - Wikipedia
    MCAD is one of the enzymes responsible for dehydrogenation of fatty acids as ... ACADM is the gene involved, located at 1p31, with 12 exons and coding for a ...

  • ACADM Gene - GeneCards | ACADM Protein | ACADM Antibody
    Aliases. Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain, Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial. MCAD, EC 1.3.8.7.

  • (MCAD) deficiency - Patient.co.uk
    20 Jun 2014 ... medium-chain acyl-CoA dehydrogenase (MCAD) deficiency or ACADM ... The gene has been mapped to locus 1p31; several allelic variations ...

  • Medium-chain acyl-CoA dehydrogenase deficiency - Baby's First Test
    If untreated, MCAD can cause brain damage and breathing problems. .... Because MCAD is a genetic condition, you may want to talk with a genetics specialistA ...

  • Parents' Guide to MCADD - California Department of Public Health
    When the MCAD enzyme is missing or not working, the body cannot use fat for ... Because of the changes in this pair of genes, the MCAD enzyme either does.

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