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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Dades bibliogràfiques
Publicat a:Genet Med
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Special Article
Accés en línia: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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