Glutaric aciduria type I: Unusual biochemical presentation
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference16 articles.
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2. Glutaric aciduria: clinical and laboratory findings in two brothers;Gregersen;J Pediatr,1977
3. Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds;Amir;J Pediatr,1989
4. Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver, application to glutaric aciduria type I;Christensen;Clin Chim Acta,1983
5. Acute profound dystonia in infants with glutaric acidemia;Bergman;Pediatrics,1989
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1. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors;Molecular Genetics and Metabolism;2016-09
2. Glutaric aciduria (type I);Atlas of Inherited Metabolic Diseases 3E;2011-12-30
3. Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I;Pediatric Neurology;2009-06
4. Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity;Developmental Medicine & Child Neurology;2008-11-12
5. Aciduria glutárica tipo I con fenotipo bioquímico de baja excreción asociado a una nueva mutación;Revista de Neurología;2007
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