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Hereditary orotic aciduria: Types I and II

โœ Scribed by Richard M. Fox; Margaret H. Wood; Debbie Royse-Smith; William J. O'Sullivan


Book ID
115676070
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
740 KB
Volume
55
Category
Article
ISSN
1555-7162

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Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), + der(22)t(l1;22)(p23;qll) karyotype. The proposita was found t