Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Susan Elliott, Norman E. Buroker, Jason J. Cournoyer et al. · Molecular Genetics and Metabolism · 2016 · 156 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

Min-Ju Chan, Hsuan-Chieh Liao, Michael H. Gelb et al. · The Journal of Pediatrics · 2018 · 61 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +10

Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools

Michael H. Gelb · International Journal of Neonatal Screening · 2018 · 55 citations · Full text

Medicine, Biostatistics, Clinical Biochemistry +16

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Liu Yang, Fan Yi, Arun Kumar et al. · Clinical Chemistry · 2017 · 50 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

Michael H. Gelb, Zoltán Lukács, Enzo Ranieri et al. · International Journal of Neonatal Screening · 2018 · 49 citations · Full text

Life Sciences, Biochemistry, Analytical Chemistry +16