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Clinical Chemistry|January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive resultsPatricia L Hall, Amy L White, Dawn Peck, et al.
Mayo Clinic Proceedings|January 7, 2019
Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry DiseaseDarrell B Newman, William R Miranda, Dietrich Matern, et al.
Plos Genetics|August 27, 2005
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceRavi J Tolwani, Doug A Hamm, Liqun Tian, et al.
Investigative Ophthalmology & Visual Science|September 16, 2024
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA VectorTiffany DeVine, Gabriela Elizondo, Garen Gaston, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
International Journal of Neonatal Screening|May 7, 2020
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe DiseaseZackary Herbst, Coleman T Turgeon, Chad Biski, et al.
Molecular Genetics and Metabolism|September 22, 2007
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) micePrem S Shekhawat, Sonne R Srinivas, Dietrich Matern, et al.
JAMA Dermatology|August 17, 2017
Facial Erosive Pustular Dermatosis After Cosmetic ResurfacingJulie E Mervak, Stephanie D Gan, Emily H Smith, et al.
Gastroenterology|May 12, 2005
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistanceJamal A Ibdah, Peter Perlegas, Yiwen Zhao, et al.
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