Concepedia

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

Stefan Kölker, Dries Dobbelaere, Johannes Häberle, Peter Burgard, Florian Gleich, Marshall Summar, Steven F. Hannigan, Samantha Parker, Anupam Chakrapani, Matthias R. Baumgartner

JIMD Reports · 2015 · 33 citations · 31 references

DOI

Concepts

References

31

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

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)

J. E. Wraith, L. Clarke, Michael Beck et al. · The Journal of Pediatrics · 2004 · 546 citations

, , +7

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 · 515 citations

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Preliminary Communication

Horst Bickel, J. W. Gerrard, EvelynM. Hickmans · The Lancet · 1953 · 495 citations

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Gregory M. Enns, Susan A. Berry, Gerard T. Berry et al. · New England Journal of Medicine · 2007 · 355 citations · Full text

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