D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness,
β¦ LIBER β¦
D-2-Hydroxyglutaric Aciduria in a Patient with a Severe Clinical Phenotype and Unusual MRI Findings
β Scribed by M. Wajner; C. R. Vargas; C. Funayama; A. Fernandez; M. L. C. Elias; S. I. Goodman; C. Jakobs; M. S. van der Knaap
- Book ID
- 110334106
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 421 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0141-8955
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