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Results 1 - 10 of 17 for Metabolic disease
  1. CAT gene 
    ... Fabre EE, Nivet-Antoine V. Catalase polymorphisms and metabolic diseases. Curr Opin Clin Nutr Metab Care. 2012 Jul; ...
    https://medlineplus.gov/genetics/gene/cat - Genetics
  2. BTD gene 
    ... deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. ...
    https://medlineplus.gov/genetics/gene/btd - Genetics
  3. CYP27B1 gene 
    ... Turner AG, Morris HA. Vitamin D activities and metabolic bone disease. Clin Chim Acta. 2013 Oct 21;425:148- ...
    https://medlineplus.gov/genetics/gene/cyp27b1 - Genetics
  4. VDR gene 
    ... Turner AG, Morris HA. Vitamin D activities and metabolic bone disease. Clin Chim Acta. 2013 Oct 21;425:148- ...
    https://medlineplus.gov/genetics/gene/vdr - Genetics
  5. PHKA1 gene 
    ... Vissing J. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology. 2012 Jan 24;78(4):265-8. ...
    https://medlineplus.gov/genetics/gene/phka1 - Genetics
  6. GLA gene 
    ... H, Rosenberg KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002;58(6):259-65. doi: 10.1159/000066443. Citation on PubMed ... leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. ...
    https://medlineplus.gov/genetics/gene/gla - Genetics
  7. ATP7A gene 
    ... 5):547-86. Citation on PubMed Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998 ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  8. FH gene 
    ... AM, Renkonen R, Lapatto R, Suomalainen A. Differential metabolic consequences of ... of disease: hereditary leiomyomatosis and renal cell cancer--a distinct ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  9. CPT1A gene 
    ... of the CPT1A gene develop this maternal liver disease. Little is known about the relationship between CPT1A gene mutations and liver problems ... hepatic malonyl-CoA-carnitine palmitoyltransferase 1A partnership creates a metabolic switch allowing oxidation of de novo fatty acids. ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  10. CA5A gene 
    ... which may result in a reduced risk of disease episodes after childhood. More About This Health Condition ... due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genet Med. 2016 Oct;18(10):991- ...
    https://medlineplus.gov/genetics/gene/ca5a - Genetics
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