Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

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

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

A Human Vitamin B12 Trafficking Protein Uses Glutathione Transferase Activity for Processing Alkylcobalamins

Jihoe Kim, Luciana Hannibal, Carmen Gherasim et al. · Journal of Biological Chemistry · 2009 · 128 citations · Full text

Life Sciences, Biochemistry, Enzymology +16

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: A sensitive assay using cultured cells

Huntington F. Willard, L. M. Ambani, Anita C. Hart et al. · Human Genetics · 1976 · 124 citations

Medicine, Genetics, Obstetrics +14