Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen.

Jonathan S. Stamler, John A. Osborne, O Jaraki et al. · Journal of Clinical Investigation · 1993 · 867 citations · Full text

Life Sciences, Biochemistry, Physiology +13

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek et al. · Nature Genetics · 2005 · 376 citations

Life Sciences, Genetics, Molecular Genetics +7

Decyanation of vitamin B ₁₂ by a trafficking chaperone

Jihoe Kim, Carmen Gherasim, Ruma Banerjee · Proceedings of the National Academy of Sciences · 2008 · 213 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

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

Chantal F. Morel, Jordan Lerner‐Ellis, David S. Rosenblatt · Molecular Genetics and Metabolism · 2006 · 137 citations

Life Sciences, Genetics, Molecular Genetics +12

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

Luciana Hannibal, Jihoe Kim, Nicola E. Brasch et al. · Molecular Genetics and Metabolism · 2009 · 132 citations

Life Sciences, Biochemistry, Cell Biology +3