Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases-Reference-Cited by-同舟云学术

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: A role for detailed molecular analysis in complex presentations of classical diseases

Published:2008-08 Issue:4 Volume:94 Page:498-502
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Deardorff Matthew A.,Gaddipati Himabindu,Kaplan Paige,Sanchez-Lara Pedro A.,Sondheimer Neal,Spinner Nancy B.,Hakonarson Hakon,Ficicioglu Can,Ganesh Jaya,Markello Thomas,Loechelt Brett,Zand Dina J.,Yudkoff Marc,Lichter-Konecki Uta

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference35 articles.

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3. Mutations and polymorphisms in the human ornithine transcarbamylase gene;Tuchman;Hum. Mutat.,2002

4. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene;Yamaguchi;Hum. Mutat.,2006

5. Prospective treatment of urea cycle disorders;Maestri;J. Pediatr.,1991

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