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Results 1 - 10 of 10 for Inborn genetic diseases
  1. ETFB gene 
    ... WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr;13(3):131-4. doi: 10.1055/s-2007-994309. Citation on PubMed
    https://medlineplus.gov/genetics/gene/etfb - Genetics
  2. SLC52A3 gene 
    ... family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Citation on PubMed
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
  3. PRDX1 gene 
    ... JL, Morrone A. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi- ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  4. HSD3B7 gene 
    ... D, Heubi JE, Setchell KD, Russell DW. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. 2003 Apr;88(4): ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  5. ASNS gene 
    ... Rolfs A, Eyaid W. Asparagine Synthetase Deficiency: New Inborn Errors of ... Function, structure, and role in disease. J Biol Chem. 2017 Dec 8;292(49): ...
    https://medlineplus.gov/genetics/gene/asns - Genetics
  6. HPRT1 gene 
    ... PubMed Nyhan WL. Dopamine function in Lesch-Nyhan disease. ... Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis. ...
    https://medlineplus.gov/genetics/gene/hprt1 - Genetics
  7. RNU7-1 gene 
    ... mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Citation on PubMed
    https://medlineplus.gov/genetics/gene/rnu7-1 - Genetics
  8. LSM11 gene 
    ... mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Citation on PubMed
    https://medlineplus.gov/genetics/gene/lsm11 - Genetics
  9. NSDHL gene 
    ... are a well-known risk factor for heart disease, the body needs some cholesterol to develop and ... Central Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  10. STAT1 gene 
    ... mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, ...
    https://medlineplus.gov/genetics/gene/stat1 - Genetics