Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency-Reference-Cited by-同舟云学术

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

Published:2009-01 Issue:1 Volume:96 Page:38-43
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dhar S.U.,Scaglia F.,Li F.-Y.,Smith L.,Barshop B.A.,Eng C.M.,Haas R.H.,Hunter J.V.,Lotze T.,Maranda B.,Willis M.,Abdenur J.E.,Chen E.,O’Brien W.,Wong L-J.C.

Publisher

Elsevier BV

Subject

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

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4. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis;Mercimek-Mahmutoglu;Neurology,2006

5. Characterization of seven novel mutations in seven patients with GAMT deficiency;Item;Hum. Mutat.,2004

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