Karen Leydiker

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

John F. Staropoli, Amel Karaa, Elaine T. Lim et al. · The American Journal of Human Genetics · 2012 · 113 citations · Full text

Molecular Neuroscience, Medicine, Natural Sciences +6

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

Natalie M. Gallant, Karen Leydiker, Hao Tang et al. · Molecular Genetics and Metabolism · 2012 · 74 citations

Newborn Screening, Pediatric Hematology, Medicine +7

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

Martina Huemer, Daniela Karall, Anna Schossig et al. · Journal of Inherited Metabolic Disease · 2015 · 58 citations · Full text

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Ashlee R. Stiles, Sacha Ferdinandusse, Arnaud Besse et al. · Molecular Genetics and Metabolism · 2015 · 37 citations · Full text

Newborn Screening, Genetic Disorder, Exome Sequencing +11

Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California

Natalie M. Gallant, Karen Leydiker, Yael Wilnai et al. · Molecular Genetics and Metabolism · 2017 · 36 citations

Newborn Screening, Neonatology, Carnitine Transporter Defect +8