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Results 1 - 10 of 20 for Inborn errors of metabolism
  1. ACY1 gene 
    ... the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3): ... RA, Lissens W. Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005 Dec 23;338( ...
    https://medlineplus.gov/genetics/gene/acy1 - Genetics
  2. ACADSB gene 
    ... Alston M, Longo N. Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/acadsb - Genetics
  3. DCXR gene 
    ... E, King MC, Motulsky AG. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. ...
    https://medlineplus.gov/genetics/gene/dcxr - Genetics
  4. GAMT gene 
    ... Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res. 1994 Sep;36(3):409-13. ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  5. ASNS gene 
    ... Rolfs A, Eyaid W. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep. 2015;22:11-6. doi: 10. ...
    https://medlineplus.gov/genetics/gene/asns - Genetics
  6. ABCD4 gene 
    ... Baumgartner MR. Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. ... symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  7. SLC52A3 gene 
    ... riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  8. PRDX1 gene 
    ... epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. Clin ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  9. GATM gene 
    ... Cioni G. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov; ...
    https://medlineplus.gov/genetics/gene/gatm - Genetics
  10. GSS gene 
    ... article on PubMed Central Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis. 2007 Mar ...
    https://medlineplus.gov/genetics/gene/gss - Genetics
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