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Results 1 - 10 of 62 for Disorder of amino acid metabolism
  1. SLC40A1 gene 
    ... usually begins during adulthood. Hereditary hemochromatosis is a disorder ... acid) in ferroportin. Abnormal ferroportin proteins cannot transport and ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
  2. TFR2 gene 
    ... usually before age 30. Hereditary hemochromatosis is a disorder that causes ... building blocks (amino acids) or proteins that are too short to function ...
    https://medlineplus.gov/genetics/gene/tfr2 - Genetics
  3. PCBD1 gene 
    ... or Free article on PubMed Central Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ... 32(3):457. Citation on PubMed Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab. 2002 Apr; ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  4. PTS gene 
    ... 01)00669-6. Citation on PubMed Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ... 32(3):457. Citation on PubMed Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab. 2002 Apr; ...
    https://medlineplus.gov/genetics/gene/pts - Genetics
  5. GCH1 gene 
    ... 0000037349.08483.96. Citation on PubMed Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ... 1):1-11. Citation on PubMed Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab. 2002 Apr; ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  6. QDPR gene 
    ... CO;2-C. Citation on PubMed Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ... 10.1007/s004390000407. Citation on PubMed Shintaku H. Disorders of tetrahydrobiopterin metabolism and their treatment. Curr Drug Metab. 2002 Apr; ...
    https://medlineplus.gov/genetics/gene/qdpr - Genetics
  7. FGF23 gene 
    ... on PubMed Central Fukumoto S. Physiological regulation and disorders of phosphate metabolism--pivotal role of fibroblast growth factor 23. Intern ... Fukumoto S. Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism. Int J Pediatr Endocrinol. 2009;2009:496514. doi: ...
    https://medlineplus.gov/genetics/gene/fgf23 - Genetics
  8. AHCY gene 
    ... adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 ... Gottfries CG, Regland B. Disturbances of one-carbon metabolism in neuropsychiatric disorders: a review. Biol Psychiatry. 1997 Jan 15;41( ...
    https://medlineplus.gov/genetics/gene/ahcy - Genetics
  9. ACAD8 gene 
    ... MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by ...
    https://medlineplus.gov/genetics/gene/acad8 - Genetics
  10. APOB gene 
    ... blood and an increased risk of developing heart disease. Each mutation that causes this condition changes a single protein building block (amino acid) in a critical region of apolipoprotein B-100. ( ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
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