Results 171 to 180 of about 8,189 (189)

Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience

Clinical Biochemistry, 2017
Shaik Mohammad Naushad, Akella Radha Rama Devi   +1 more
exaly  

A case of familial ‘benign’ methylmalonic aciduria?

Journal of Inherited Metabolic Disease, 1996
A C, Sewell, J, Herwig, H, Böhles
openaire   +2 more sources

Methylmalonic Aciduria and Hypoglycemia

New England Journal of Medicine, 1976
openaire   +1 more source

A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China

Journal of the Neurological Sciences, 2012
Wenjun Sun, Cunjiang Li, Yanhui Yang
exaly  

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

Ophthalmic Genetics, 2015
James R. Lupski, Tomasz Gambin, Richard Gibbs   +2 more
exaly  

-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Molecular Genetics and Metabolism, 2003
Hansjosef Böhles
exaly  

Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Molecular Genetics and Metabolism, 2008
George A Diaz, Claude Sansaricq
exaly  

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

Clinical Genetics, 1995
Egil Jellum, Oddvar Stokke, O H Skjeldal
exaly  

Combined methylmalonic aciduria and homocystinuria (): Phenotype–genotype correlations and ethnic-specific observations

Molecular Genetics and Metabolism, 2006
David S Rosenblatt, Jordan P Lerner-Ellis   +1 more
exaly  

METHYLMALONIC ACIDURIA AND PERNICIOUS ANÆMIA

The Lancet, 1966
B. Levin, V.G. Oberholzer, E. Ann Burgess, WinifredF. Young   +3 more
openaire   +1 more source