D-2-Hydroxyglutaric Aciduria
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/3-540-27660-2_44
Reference23 articles.
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2. Amiel J, de Lonay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S Munnich A. Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet 1999; 86: 124–129
3. Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP. D-2-hydroxyglutaric aciduria: hypertonia, cortical blindness, seizures, cardiomyopathy and cylindrical spirals in skeletal muscle. J Child Neurol 1997; 12: 31–36
4. Chalmers RA, Lawson AM, Watts WE, Tavill AS. D-2-Hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 1980; 3: 11–15
5. Clarcke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP. D-2-Hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. Am J Med Genet 2003; 120A: 523–527
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1. L-2-Hydroxyglutaric Aciduria: Report of Two Indian Families;The Indian Journal of Pediatrics;2013-09-15
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