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Muscle & Nerve|June 18, 2009
Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratoryJennifer L Goldstein, Sarah P Young, Mohita Changela, et al.
Molecular Genetics and Metabolism|April 16, 2013
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiencyAreeg H El-Gharbawy, Jennifer L Goldstein, David S Millington, et al.
Breast Cancer Research and Treatment|September 11, 2010
Individual responses to chemotherapy-induced oxidative stressDora Il'yasova, Kelly Kennedy, Ivan Spasojevic, et al.
Pediatrics|June 1, 2006
Naming and counting disorders (conditions) included in newborn screening panelsLawrence Sweetman, David S Millington, Bradford L Therrell, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|October 30, 2019
Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malariaTsin W Yeo, Peggy A Bush, Youwei Chen, et al.
Clinical Chemistry|August 24, 2011
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newbornsRamakrishna S Sista, Allen E Eckhardt, Tong Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 2018
Acetyl-l-carnitine deficiency in patients with major depressive disorderCarla Nasca, Benedetta Bigio, Francis S Lee, et al.
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.
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