Kimiyo Raymond

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte et al. · The American Journal of Human Genetics · 2014 · 176 citations · Full text

Mendelian Disorder, Autoimmune Disease, Pgm3 Mutations Cause +13

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Eric J. R. Jansen, Sharita Timal, Margret Ryan et al. · Nature Communications · 2016 · 146 citations · Full text

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

Coleman Turgeon, Mark J Magera, Pierre Allard et al. · Clinical Chemistry · 2008 · 141 citations · Full text