Vincent J. Carson

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Kevin A. Strauss, Vincent J. Carson, Kyle Soltys et al. · Molecular Genetics and Metabolism · 2020 · 140 citations · Full text

Metabolic Disorder, Pathology, Metabolic Syndrome +19

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

Lauren E. Bowser, Millie Young, Olivia Wenger et al. · Molecular Genetics and Metabolism · 2019 · 53 citations

Developmental Biology, Genetic Disorder, Genetics +9

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

Kevin A. Strauss, Charles E. Ahlfors, Kyle Soltys et al. · Hepatology · 2019 · 49 citations · Full text

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick et al. · Brain · 2022 · 31 citations · Full text

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Katie B. Williams, Karlla W. Brigatti, Erik G. Puffenberger et al. · Human Molecular Genetics · 2018 · 30 citations

Catalytic Domain, Genetics, Molecular Biology +18