Methylmalonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: Activity of urea cycle enzymes

Author:

Shapiro Larry J.,Bocian Maureen E.,Raijman Luisa,Cederbaum Stephen D.,Shaw Kenneth N.F.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. The urea cycle disorders;Shih,1972

2. Localization of enzyme defect in propionicacidemia;Gompertz;Lancet,1970

3. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: A preliminary report;Keating;Pediatrics,1972

4. Observations on the coexistence of methylmalonic acidemia and glycinemia;Morrow;J Pediatr,1969

5. L’Acidemie melhylmalonique. Une cause nouvelle d’acidocetose grave;Boisse;Ann Pediatr,1971

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1. Methylmalonic acid in aging and disease;Trends in Endocrinology & Metabolism;2023-11

2. Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia;Journal of Inherited Metabolic Disease;2023-06-06

3. Amino Acids;Volpe's Neurology of the Newborn;2018

4. Hyperammonemia and Other Disorders of Amino Acid Metabolism;Neurology of the Newborn;2008

5. Inborn Errors of Amino Acid and Organic Acid Metabolism;Principles of Perinatal—Neonatal Metabolism;1998

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