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Results 1 - 3 of 3 for "Medium-chain" "acyl-coenzyme" A dehydrogenase deficiency
  1. Medium-chain acyl-CoA dehydrogenase deficiency 
    ... MCADH deficiency Medium chain acyl-CoA dehydrogenase deficiency Medium-chain acyl-coenzyme A dehydrogenase deficiency Genetic Testing Registry: Medium-chain acyl-coenzyme A ...
    https://medlineplus.gov/...m-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  2. ACADM gene 
    ... Shih VE, Grady GF, Eaton RB. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. Pediatrics. 2008 May;121( ... correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005 May;25(5):443-52. ...
    https://medlineplus.gov/genetics/gene/acadm - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... epidermolysis bullosa Leigh syndrome Limb-girdle muscular dystrophy Medium-chain acyl-CoA dehydrogenase deficiency , also called MCAD deficiency Maple syrup urine disease ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics