Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type-Reference-Cited by-同舟云学术

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

Published:2013-11 Issue:3 Volume:110 Page:241-247
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Weisfeld-Adams James D.,Bender H. Allison,Miley-Åkerstedt Anna,Frempong Tamiesha,Schrager Nina L.,Patel Keyur,Naidich Thomas P.,Stein Victoria,Spat Jessica,Towns Stephanie,Wasserstein Melissa P.,Peter Inga,Frank Yitzchak,Diaz George A.

Funder

American College of Medical Genetics Foundation/Genzyme Corporation Fellowship Award

Kyle Thomas Colamaria Foundation

Publisher

Elsevier BV

Subject

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

Reference39 articles.

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3. MRI and 1H-MRS findings in early-onset cobalamin C/D defect;Longo;Neuropediatrics,2005

4. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC);Rosenblatt;J. Inherit. Metab. Dis.,1997

5. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management;Carrillo-Carrasco;J. Inherit. Metab. Dis.,2012

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