3-Hydroxy-3-Methylglutaric Aciduria
Author:
Publisher
Informa UK Limited
Subject
Cellular and Molecular Neuroscience,Genetics
Link
http://www.tandfonline.com/doi/pdf/10.3109/01677068409107082
Reference18 articles.
1. Treatment of hyperammonemic coma caused by inborn errors of urea synthesis
2. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
3. 3-Hydroxy-3-methylglutaric aciduria combined with 3-methylglutaconic aciduria: A new case
4. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency: Postnatal management following prenatal diagnosis by analysis of maternal urine
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1. 3 Hydroxy 3 Methyl Glutaryl CoA Lyase Deficiency;Genetic Syndromes;2023
2. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients;Molecular Genetics and Metabolism;2017-07
3. 3-Hydroxy-3-methylglutarylCoA lyase deficiency;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
4. Deficiência da 3-OH-3-metil-glutaril-CoA-liase como causa de coma no período neonatal: relato de caso;Arquivos de Neuro-Psiquiatria;1998-09
5. HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q;The American Journal of Human Genetics;1998-02
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