Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
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DOI: 10.1038/gim.2017.7
Abstract: 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… read more here.
Keywords: sphingomyelinase; diagnostic guideline; acid sphingomyelinase; sphingomyelinase deficiency ... See more keywords