Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity-Reference-Cited by-同舟云学术

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity

Published:2006-07 Issue:3 Volume:88 Page:256-260
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Jung Ronny,Rauch Anita,Salomons Gajja S.,Verhoeven Nanda M.,Jakobs Cornelis,Michael Gibson K.,Lachmann Ehrenfried,Sass Jörn Oliver,Trautmann Udo,Zweier Christiane,Staatz Gundula,Knerr Ina

Publisher

Elsevier BV

Subject

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

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5. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients;Gibson;Pediatrics,1997

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