Article
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017
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
Abstract excerpt
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 expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases....
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