Concepedia

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

Hissa Moammar, George Cheriyan, Revi P. Mathew, Nouriya Al‐Sannaa

Annals of Saudi Medicine · 2010 · 135 citations · 37 references

DOIFull text

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Abstract

We believe that our data underestimate the true incidence of IEM in the region. Regional and national newborn screening programs will provide a better estimation of the incidence of IEM. We recommend a centralized newborn screening program that employs tandem mass spectrometry.

References

37

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 · 724 citations

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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 · 675 citations

Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Andreas Schulze, Martin Lindner, Dirk Kohlmüller et al. · PEDIATRICS · 2003 · 510 citations

Executive Summary

Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear et al. · Genetics in Medicine · 2006 · 484 citations · Full text

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease

Fernando Scaglia, Jeffrey A. Towbin, William J. Craigen et al. · PEDIATRICS · 2004 · 460 citations