Thomas Jefferson University

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Tomatsu, Shunji
One or more keywords matched the following items that are connected to Tomatsu, Shunji
Item TypeName
Concept Neonatal Screening
Academic Article Clinical presentation and diagnosis of mucopolysaccharidoses.
Academic Article Newborn screening and diagnosis of mucopolysaccharidoses.
Academic Article Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Academic Article Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS.
Academic Article Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.
Academic Article Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease.
Academic Article Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
Academic Article Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry.
Academic Article A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
Academic Article Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Academic Article Newborn screening of mucopolysaccharidoses: past, present, and future.
Academic Article Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?
Academic Article Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Academic Article Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
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  • Neonatal Screening