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Results 1 - 10 of 17 for Biochemistry
  1. Adenylosuccinate lyase deficiency 
    ... of five disease-associated human adenylosuccinate lyase mutants. Biochemistry. 2009 Jun 16;48(23):5291-302. doi: ... ADSL) and the R303C ADSL deficiency-associated mutation. Biochemistry. 2012 Aug 21;51(33):6701-13. doi: ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  2. Ataxia with vitamin E deficiency 
    ... the neurodegenerative disease ataxia with vitamin E deficiency. Biochemistry. 2013 Jun 18;52(24):4264-73. doi: ... heritable mutations in the alpha-tocopherol transfer protein. Biochemistry. 2006 Jul 11;45(27):8236-42. doi: ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  3. Methylmalonic acidemia with homocystinuria 
    ... Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation. J Inherit Metab Dis. 2019 ... 2019 Feb 13. Citation on PubMed Krautler B. Biochemistry of B12-cofactors in human metabolism. Subcell Biochem. ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  4. Bare lymphocyte syndrome type II 
    ... factors: association and promoter recognition of RFX proteins. Biochemistry. 2004 Oct 12;43(40):12750-60. doi: ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  5. Autosomal recessive axonal neuropathy with neuromyotonia 
    ... of human histidine triad nucleotide binding protein 1. Biochemistry. 2013 May 21;52(20):3588-600. doi: ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  6. Trisomy 18 
    ... Hallahan T, Jackson L; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  7. Zellweger spectrum disorder 
    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
  8. Histidinemia 
    ... 2. Citation on PubMed Kessler AT, Raja A. Biochemistry, Histidine. 2023 Jul 30. In: StatPearls [Internet]. Treasure ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  9. Noonan syndrome with multiple lentigines 
    ... gain-of-function LEOPARD syndrome-associated SHP2 mutations. Biochemistry. 2014 Jul 1;53(25):4136-51. doi: ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  10. Sialuria 
    ... DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun; ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
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