Methylmalonic acidemia with a severe chemical but benign clinical phenotype
- 31 March 1993
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 122 (3) , 428-429
- https://doi.org/10.1016/s0022-3476(05)83434-1
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutaseHuman Genetics, 1992
- Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemiaThe Journal of Pediatrics, 1991
- Methylmalonic aciduria presenting in an adultJournal of Inherited Metabolic Disease, 1991
- Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineJournal of Inherited Metabolic Disease, 1987
- Benign Methylmalonic AciduriaNew England Journal of Medicine, 1984