Concepedia

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

Sabrina Malvagia, Christopher A. Haynes, Laura Grisotto, Daniela Ombrone, Silvia Funghini, Elisa Moretti, Kathleen S. McGreevy, Annibale Biggeri, Renzo Guerrini, Raquel Yahyaoui,

Clinica Chimica Acta · 2015 · 43 citations · 22 references

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22

The metabolic and molecular bases of inherited disease

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

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Biostatistics: A Methodology for the Health Sciences.

Ralph B. D’Agostino, Lloyd D. Fisher, Gerald van Belle · Journal of the American Statistical Association · 1995 · 962 citations

, , +4

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

Bridget Wilcken, Veronica Wiley, Judith Hammond et al. · New England Journal of Medicine · 2003 · 683 citations

, , +14

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

, , +16

Clinical spectrum and diagnosis of cobalamin deficiency [see comments]

Blood · 1990 · 333 citations

, , +12