Results 111 to 118 of about 1,126 (118)

Spectrum of Mutations in MMACHC, Allelic Expression, and Evidence for Genotype–Phenotype Correlations

Human Mutation, 2009
Elin Grundberg, David Coelho, David S Rosenblatt   +2 more
exaly  

Interaction Between MMACHC and MMADHC, Two Human Proteins Participating in Intracellular Vitamin B12 Metabolism

Molecular Genetics and Metabolism, 2011
David S Rosenblatt, James W Coulton, Christopher Ng-Thow-Hing   +2 more
exaly  

Mutation Spectrum of MMACHC in Chinese Patients With Combined Methylmalonic Aciduria and Homocystinuria

Journal of Human Genetics, 2010
Kwang-Jen Hsiao, Tze-Tze Liu
exaly  

Methionine Synthase and Methionine Synthase Reductase Interact With MMACHC and With MMADHC

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2017
David Coelho, Jean-Louis Guéant, Justine Flayac   +2 more
exaly  

Thermolability of Mutant MMACHC Protein in the Vitamin B12-Responsive cblC Disorder

Molecular Genetics and Metabolism, 2010
U Oppermann, R A Gravel
exaly  

The Mmachc Gene Is Required for Pre-Implantation Embryogenesis in the Mouse

Molecular Genetics and Metabolism, 2014
Michel L Tremblay, David S Rosenblatt, Loydie Anne Jerome-Majewska   +2 more
exaly  

Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)

Human Mutation, 2009
Celia Pérez-Cerdá, Antonia Ribes, Lourdes R Desviat   +2 more
exaly  

Missense Mutations in MMACHC Protein From cblC Disease Affect Its Conformational Stability and Vitamin B12-Binding Activity: The Example of R161Q Mutation

Molecular Genetics and Metabolism
Paula M Garcia-Franco
exaly