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JIMD Reports|February 15, 2015
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningYin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, et al.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Pediatric Research|May 9, 2003
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningDwight D Koeberl, Sarah P Young, Niels S Gregersen, et al.
Infection and Immunity|February 6, 2019
Kinetic and Cross-Sectional Studies on the Genesis of Hypoargininemia in Severe Pediatric Plasmodium falciparum MalariaMatthew P Rubach, Haoyue Zhang, Salvatore M Florence, et al.
Human Molecular Genetics|May 22, 2014
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemiaSander M Houten, Simone Denis, Heleen Te Brinke, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 19, 2010
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Christiane Auray-Blais, Aimé Ntwari, Joe T R Clarke, et al.
JAMA Network Open|February 1, 2020
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaStacey Lee, Kristin Clinard, Sarah P Young, et al.
Pediatric Research|July 22, 2006
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screeningChristina B Pedersen, Claus Bischoff, Ernst Christensen, et al.
Omics : a Journal of Integrative Biology|March 18, 2009
The STEDMAN project: biophysical, biochemical and metabolic effects of a behavioral weight loss intervention during weight loss, maintenance, and regainLillian F Lien, Andrea M Haqq, Michelle Arlotto, et al.
American Journal of Medical Genetics. Part A|February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variantDaniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
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