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
Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study
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DOI: 10.2147/ppa.s381371
Abstract: Purpose Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and potentially fatal disease affecting major organs; its symptoms present heterogeneously. Data on the most bothersome symptoms for patients with ASMD types B or A/B and… read more here.
Keywords: potential symptoms; sphingomyelinase deficiency; impact potential; symptoms risks ... See more keywords