Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference13 articles.
1. Localization of enzyme defect in propionicacidemia;Gompertz;Lancet,1970
2. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: A preliminary report;Keating;Pediatrics,1972
3. Observations on the coexistence of methylmalonic acidemia and glycinemia;Morrow;J Pediatr,1969
4. Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria;Kang;Pediatr Res,1972
5. Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography;Nakamura;Clin Chim Acta,1976
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1. Methylmalonic acid in aging and disease;Trends in Endocrinology & Metabolism;2023-11
2. A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability;Amino Acids;2016-03-03
3. Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis;Medicine;2015-03
4. Methylmalonic acidemia;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
5. Current Status of Hyperammonemic Syndromes;Hepatology;2007-10-08
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