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Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.
Molecular Genetics and Metabolism|August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDGPatrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism|June 18, 2020
Laboratory monitoring of patients with hereditary tyrosinemia type IMatthew J Schultz, Brian C Netzel, Rani H Singh, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
Molecular Genetics and Metabolism|November 1, 2025
Clinical utility of untargeted urine oligosaccharide screeningGisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Molecular Genetics and Metabolism|May 9, 2009
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) methodWalter C Hubbard, Ann B Moser, Anita C Liu, et al.
The Journal of Pediatrics|June 19, 2012
Thiamine deficiency in Cambodian infants with and without beriberiDebra Coats, Kelsey Shelton-Dodge, Kevanna Ou, et al.
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