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Molecular Genetics and Metabolism|December 16, 2023
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylationWilliam G Bauer, David Watkins, Caitlin Zacharias, et al.
Molecular Genetics and Metabolism|October 2, 2025
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literatureChloé J Geerts, Fernando Alvarez, Brian M Gilfix, et al.
Thrombosis Journal|December 18, 2014
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosisZuhier Awan, Sumayah Aljenedil, David S Rosenblatt, et al.
Molecular Genetics and Metabolism|July 9, 2008
Transcobalamin in cultured fibroblasts from patients with inborn errors of vitamin B12 metabolismLama Yamani, Bernard F Gibbs, Brian M Gilfix, et al.
Clinical Toxicology (Philadelphia, Pa.)|December 2, 2015
Review of the effect of intravenous lipid emulsion on laboratory analysesAmi M Grunbaum, Brian M Gilfix, Robert S Hoffman, et al.
Molecular Genetics and Metabolism|November 7, 2025
Identification of variants of the MTR gene in patients with the cblG inborn error of cobalamin metabolism diagnosed by somatic cell complementation analysisDavid Watkins, Caitlin Zacharias, Kyana Arbabian-Urquilla, et al.
Molecular Genetics and Metabolism|October 3, 2012
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduriaLaura Dempsey-Nunez, Margaret L Illson, Jana Kent, et al.
Plos One|December 5, 2019
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosisEmma J Brasell, Lee Lee Chu, Murielle M Akpa, 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.
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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