Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

DISCLAIMER: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on e...

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Udgivet i:Genet Med
Main Authors: McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Special Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5589980/
https://ncbi.nlm.nih.gov/pubmed/28406489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.7
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