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Results 1 - 10 of 49 for Inborn errors of metabolism
  1. Dilated cardiomyopathy with ataxia syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  2. Barth syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  3. MEGDEL syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Costeff syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  6. 3-methylcrotonyl-CoA carboxylase deficiency 
    ... Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Mol Genet Metab. 2016 May;118( ...
    https://medlineplus.gov/...methylcrotonyl-coa-carboxylase-deficiency - Genetics
  7. Alkaptonuria 
    Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. Ochronosis, a buildup of dark (blue-black) ...
    https://medlineplus.gov/genetics/condition/alkaptonuria - Genetics
  8. Dihydropyrimidinase deficiency 
    Dihydropyrimidinase deficiency is a disorder that can cause neurological and gastrointestinal problems in some affected individuals. Other people with dihydropyrimidinase ...
    https://medlineplus.gov/.../condition/dihydropyrimidinase-deficiency - Genetics
  9. Dihydropyrimidine dehydrogenase deficiency 
    Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms ...
    https://medlineplus.gov/...ihydropyrimidine-dehydrogenase-deficiency - Genetics
  10. Beta-ureidopropionase deficiency 
    Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta- ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
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