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Human Mutation|November 4, 2004
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolismJordan P Lerner-Ellis, C Melissa Dobson, Timothy Wai, et al.
Molecular Genetics and Metabolism|May 16, 2006
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduriaC Melissa Dobson, Abigail Gradinger, Nicola Longo, et al.
Global Heart|March 25, 2017
The WHF Roadmap for Reducing CV Morbidity and Mortality Through Prevention and Control of RHDBenjamin Palafox, Ana Olga Mocumbi, R Krishna Kumar, et al.
Molecular Genetics and Metabolism|May 28, 2013
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduriaMargaret L Illson, Laura Dempsey-Nunez, Jana Kent, et al.
BMC Cancer|February 18, 2016
Characterising timing and pattern of relapse following surgery for localised oesophagogastric adenocarcinoma: a retrospective studySing Yu Moorcraft, Elisa Fontana, David Cunningham, et al.
Cell Chemical Biology|May 7, 2019
Allosteric Regulation of Oligomerization by a B<sub>12</sub> Trafficking G-Protein Is Corrupted in Methylmalonic AciduriaMarkus Ruetz, Gregory C Campanello, Liam McDevitt, et al.
Molecular Genetics and Metabolism|February 1, 2016
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolismMihaela Pupavac, Xia Tian, Jordan Chu, et al.
Molecular Genetics and Metabolism|January 18, 2006
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduriaJordan P Lerner-Ellis, Abigail B Gradinger, David Watkins, et al.
Human Mutation|June 29, 2016
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional ActivatorMihaela Pupavac, David Watkins, Francis Petrella, et al.
Molecular Genetics and Metabolism|May 17, 2020
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiencyGawa Bidla, David Watkins, Céline Chéry, et al.
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