Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
✍ Scribed by Siddharth Banka; Henk J. Blom; John Walter; Majid Aziz; Jill Urquhart; Christopher M. Clouthier; Gillian I. Rice; Arjan P.M. de Brouwer; Emma Hilton; Grace Vassallo; Andrew Will; Desirée E.C. Smith; Yvo M. Smulders; Ron A. Wevers; Robert Steinfeld; Simon Heales; Yanick J. Crow; Joelle N. Pelletier; Simon Jones; William G. Newman
- Book ID
- 113422983
- Publisher
- American Society of Human Genetics
- Year
- 2011
- Tongue
- English
- Weight
- 969 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0002-9297
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📜 SIMILAR VOLUMES
Identical male twins and their brother, cholestatic from birth, with A4-3-oxosteroid 5p-reductase deficiency, were studied by serial liver biopsy. Spectrometry documented defective primary bile acid syn- thesis and markedly increased levels of atypical 0x0 and all0 bile acids in urine and serum. Hep