Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with 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

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

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Medicine, Genetics, Pediatrics +17

Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · Genetics in Medicine · 2006 · 487 citations · Full text

Education, Elementary Education, Instruction +16

Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

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Medicine, Pediatrics, Preventive Medicine +12

Cobalamin and folate deficiency: acquired and hereditary disorders in children.

PubMed · 1999 · 164 citations

Public Health, Child Health, Pediatrics +14