Kimberly A. Chapman

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny, Friederike Hörster, Diana Ballhausen et al. · Journal of Inherited Metabolic Disease · 2021 · 247 citations · Full text

Critical Care Medicine, Transplant Outcomes, Metabolic Disorder +15

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Identification and quantitation of benzo[a]pyrene-DNA adducts formed in mouse skin

Eleanor G. Rogan, Prabhakar D. Devanesan, N. V. S. Ramakrishna et al. · Chemical Research in Toxicology · 1993 · 122 citations

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Cas Simons, Laurie B. Griffin, Guy Helman et al. · The American Journal of Human Genetics · 2015 · 112 citations · Full text

Persistent Myelination Defect, Neurological Disorder, Genetic Disorder +8