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Results 1 - 10 of 27 for metabolic disorders
  1. GLA gene 
    ... KM, Hasholt L, Sorensen SA. Fabry disease--a metabolic disorder with a challenge for endocrinologists? Horm Res. 2002; ...
    https://medlineplus.gov/genetics/gene/gla - Genetics
  2. SLC30A10 gene 
    ... Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. J Inherit Metab Dis. 2008 Apr;31(2): ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. BCS1L gene 
    ... Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  4. 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
  5. 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
  6. ATP6V0A4 gene 
    ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by ...
    https://medlineplus.gov/genetics/gene/atp6v0a4 - Genetics
  7. ATP6V1B1 gene 
    ... people with renal tubular acidosis with deafness, a disorder involving excess acid in the blood (metabolic acidosis), bone weakness, and hearing loss caused by ...
    https://medlineplus.gov/genetics/gene/atp6v1b1 - Genetics
  8. SLC4A1 gene 
    ... associated distal renal tubular acidosis, a kidney (renal) disorder that leads to the buildup of acid in the blood (metabolic acidosis). Some people with this condition also have ...
    https://medlineplus.gov/genetics/gene/slc4a1 - Genetics
  9. PTEN gene 
    ... Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder. ... and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  10. MOCS2 gene 
    ... been found to cause a form of the disorder designated type B or ... the function of the metabolic enzymes that rely on it.The resulting loss ...
    https://medlineplus.gov/genetics/gene/mocs2 - Genetics
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