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Results 31 - 40 of 792 for Metabolism
  1. DCXR gene 
    ... Human DCXR - another 'moonlighting protein' involved in sugar metabolism, carbonyl detoxification, cell adhesion and male fertility? Biol ... Motulsky AG. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. ...
    https://medlineplus.gov/genetics/gene/dcxr - Genetics
  2. Asparagine synthetase deficiency 
    ... encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism Genetic Testing Registry: Congenital microcephaly - severe encephalopathy - progressive ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  3. MMAB gene 
    ... type B MMAB_HUMAN Tests of MMAB PubMed METABOLISM OF COBALAMIN ASSOCIATED B; MMAB NCBI Gene ClinVar ... I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. Mol Genet Metab. 2006 Apr;87(4):315- ...
    https://medlineplus.gov/genetics/gene/mmab - Genetics
  4. MMAA gene 
    ... type A MMAA_HUMAN Tests of MMAA PubMed METABOLISM OF COBALAMIN ASSOCIATED A; MMAA NCBI Gene ClinVar ... patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat. 2004 Dec;24(6):509-16. ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  5. Iron-refractory iron deficiency anemia 
    ... condition. Anemia, hypochromic microcytic, with defect in iron metabolism IRIDA IRIDA syndrome Iron-handling disorder, hereditary Genetic ...
    https://medlineplus.gov/.../iron-refractory-iron-deficiency-anemia - Genetics
  6. Cerebrotendinous xanthomatosis 
    ... PubMed Bhattacharyya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  7. OPA3 gene 
    ... Tests of OPA3 PubMed OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3 NCBI Gene ClinVar Anikster Y, ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  8. HAMP gene 
    ... C. Hepcidin: Homeostasis and Diseases Related to Iron Metabolism. Acta Haematol. 2017;137(4):220-236. doi: ...
    https://medlineplus.gov/genetics/gene/hamp - Genetics
  9. Maple syrup urine disease 
    ... Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  10. Biotin-thiamine-responsive basal ganglia disease 
    ... BBGD Biotin-responsive basal ganglia disease BTBGD Thiamine metabolism dysfunction syndrome 2 Thiamine transporter-2 deficiency Thiamine- ...
    https://medlineplus.gov/...thiamine-responsive-basal-ganglia-disease - Genetics
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