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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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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