Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency-Reference-Cited by-同舟云学术

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

Published:2013-11 Issue:3 Volume:110 Page:231-236
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tondo Mireia,Calpena Eduardo,Arriola Gema,Sanz Paloma,Martorell Loreto,Ormazabal Aida,Castejon Esperanza,Palacin Manuel,Ugarte Magdalena,Espinos Carmen,Perez Belen,Perez-Dueñas Belen,Pérez-Cerda Celia,Artuch Rafael

Funder

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain

Publisher

Elsevier BV

Subject

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

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4. Disorders of ornithine, lysine and tryptophan;Przyrembel,2003

5. Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology;Dancis;Am. J. Hum. Genet.,1979

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