Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Margaret M McGovernCarlo Dionisi-ViciRoberto GiuglianiPaul HwuOlivier LidoveZoltan LukacsKarl Eugen MengelPramod K MistryEdward H SchuchmanMelissa P WassersteinPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD.Genet Med advance online publication 13 April 2017.