Ingrid Tein

<scp>l</scp>‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives

Darryl C. De Vivo, Timothy P. Bohan, David L. Coulter et al. · Epilepsia · 1998 · 167 citations · Full text

Electrolyte Disorder, Neurophysiology, Childhood Epilepsy +9

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

Frank Merante, Ingrid Tein, Lee Benson et al. · PubMed · 1994 · 124 citations

Mitochondrial encephalomyopathy, lactic acidosis, stroke‐like episodes (MELAS): Clinical, radiological, pathological, and genetic observations

Betty Koo, Laurence E. Becker, Sylvester Chuang et al. · Annals of Neurology · 1993 · 121 citations

Novel<i>OCTN2</i>mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Anne‐Marie Lamhonwah, S. E. Olpin, R. J. Pollitt et al. · American Journal of Medical Genetics · 2002 · 119 citations

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Christina B. Pedersen, Steen Kølvraa, Agnete Kølvraa et al. · Human Genetics · 2008 · 116 citations

Mendelian Disorder, Missense Variations, Genetic Disorder +12