Cynthia Freehauf

Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations

Margaret E. Chamberlin, Tsuneyuki Ubagai, S. Harvey Mudd et al. · The American Journal of Human Genetics · 2000 · 79 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Management of a patient with holocarboxylase synthetase deficiency

Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf et al. · Molecular Genetics and Metabolism · 2008 · 45 citations · Full text

Medicine, Holocarboxylase Synthetase Deficiency, Mendelian Disorder +1

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria

Amy K. Keating, Cynthia Freehauf, Gary Brodsky et al. · Molecular Genetics and Metabolism · 2011 · 35 citations · Full text

Inflammation, Cytokine, Signal Transduction +10

Low bone mineral density is a common finding in patients with homocystinuria

David R. Weber, Curtis R. Coughlin, Jill L. Brodsky et al. · Molecular Genetics and Metabolism · 2015 · 28 citations · Full text

Bone Disease, Urology, Bone Health +10

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Johan L.K. Van Hove, Cynthia Freehauf, Loren Peña et al. · Journal of Inherited Metabolic Disease · 2019 · 19 citations