Methylmalonic Acidemia
Methylmalonic Acidemia: Public Health & Genomic Insights - August 17, 2015
What is methylmalonic acidemia?
NIH Genetics Home Reference
NIH Genetics Home Reference
Check out genetic conditions and tests associated with methylmalonic acidemia, from the NIH Genetic Testing Registry
from the NIH Genetic Testing Registry
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
Manoli I et al. Genet. Med. 2015 Aug 13.
Manoli I et al. Genet. Med. 2015 Aug 13.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Manoli I et al. Genet. Med. 2015 Aug 13.
Manoli I et al. Genet. Med. 2015 Aug 13.
New research reveals unintended consequences of inappropriate medical food use in managing patients with a type of metabolic disorder, NIH Research News, August, 2015
NIH Research News, August, 2015
Early liver transplantation for neonatal-onset methylmalonic acidemia.
Spada M et al. Pediatrics 2015 Jul (1) e252-6
Spada M et al. Pediatrics 2015 Jul (1) e252-6
Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.
Li M et al. Liver Transpl. 2015 May 19.
Li M et al. Liver Transpl. 2015 May 19.
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
Ktena YP et al. Am. J. Med. Genet. A 2015 May 10.
Ktena YP et al. Am. J. Med. Genet. A 2015 May 10.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR et al. Orphanet J Rare Dis 2014 130
Baumgartner MR et al. Orphanet J Rare Dis 2014 130
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