Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

Life Sciences, Genetics, Molecular Genetics +14

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

Marco Spada, Severo Pagliardini, Makiko Yasuda et al. · The American Journal of Human Genetics · 2006 · 1K citations · Full text

Life Sciences, Genetics, Pediatrics +13

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

Life Sciences, Genetics, Pathology +9

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

David S. Millington, Naoki Kodo, Daniel L. Norwood et al. · Journal of Inherited Metabolic Disease · 1990 · 576 citations

Life Sciences, Biochemistry, Mass Spectrometric Analysis +16

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Donald H. Chace, David S. Millington, Naoto Terada et al. · Clinical Chemistry · 1993 · 375 citations

Life Sciences, Biochemistry, Pediatrics +14