Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases-Reference-Cited by-同舟云学术

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases

Published:2004-04 Issue:4 Volume:81 Page:295-299
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Poll-The Bwee Tien,Wanders Ronald J.A,Ruiter Jos P.N,Ofman Rob,Majoie Charles B.L.M,Barth Peter G,Duran Marinus

Publisher

Elsevier BV

Subject

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

Reference12 articles.

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3. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism;Gibson;Pediatr. Res.,2000

4. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism;Zschocke;Pediatr. Res.,2000

5. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency;Ensenauer;Ann. Neurol.,2002

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