D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings

Author:

Wajner M.1,Vargas C. R.2,Funayama C.3,Fernandez A.3,Elias M. L. C.3,Goodman S. I.4,Jakobs C.5,van der Knaap M. S.6

Affiliation:

1. ; Department of Biochemistry, ICBS; Universidade Federal do Rio Grande do Sul; Porto Alegre, Rs

2. Medical Genetics Service; Hospital de Cl[iacute; Porto Alegre, RS

3. ; Faculdade de Medicina de Ribeirão Preto; Ribeirão Preto, SP Brazil

4. ; Department of Pediatrics; University of Colorado School of Medicine, Denver; Colorado USA

5. ; Department of Clinical Chemistry, Metabolic Unit; Vrije Universiteit Medical Center; Amsterdam

6. ; Department of Child Neurology; Vrije Universiteit Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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