Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs. We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pan...

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Bibliografski detalji
Glavni autori: Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2011
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035707/
https://ncbi.nlm.nih.gov/pubmed/21310276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.01.004
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