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The Journal of Pediatrics|May 29, 2019
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn ScreeningJennifer L Taylor, Kristin Clinard, Cynthia M Powell, 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.
Pediatric Pulmonology|January 30, 2020
Urine gastrin-releasing peptide in the first week correlates with bronchopulmonary dysplasia and post-prematurity respiratory diseaseJudith A Voynow, Kimberley Fisher, Mary E Sunday, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2026
A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing OptionsKaterina S Kucera, Kristin Clinard, Samantha L Blake, et al.
JCI Insight|September 9, 2025
Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemiaMadeline G Hemmingsen, Guo-Fang Zhang, Yunhan Ma, et al.
The New England Journal of Medicine|November 9, 2022
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's DiseaseJennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, et al.
Science Translational Medicine|April 19, 2023
Rescue of glutaric aciduria type I in mice by liver-directed therapiesMercedes Barzi, Collin G Johnson, Tong Chen, et al.
Journal of Inherited Metabolic Disease|March 16, 2019
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trialJohan L K Van Hove, Cynthia L Freehauf, Can Ficicioglu, et al.
Orphanet Journal of Rare Diseases|August 8, 2025
Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase DeficiencyZahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm, et al.
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