Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion-Reference-Cited by-同舟云学术

Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion

Published:2015-02 Issue:2 Volume:556 Page:249-253
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Gallant Natalie M.,Gui Dorina,Lassman Charles R.,Yong William H.,Teitell Michael,Mandelker Diana,Lorey Fred,Martinez-Agosto Julian A.,Quintero-Rivera Fabiola

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference21 articles.

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2. Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance;Badizadegan;Hepatology,1997

3. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency;Balasubramaniam;Mol. Genet. Metab.,2010

4. Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3;Brown;Genomics,1996

5. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males;Campbell;N. Engl. J. Med.,1973

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3. Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency;JIMD Reports;2018

4. Developmental and Inherited Liver Disease;Macsween's Pathology of the Liver;2018

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