Clinical Presentation, Detection and Therapy of Acid Sphingomyelinase Deficiency (ASMD)
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Gastroenterology & Hepatopancreatobiliary Medicine".
Deadline for manuscript submissions: closed (20 September 2021) | Viewed by 8900
Special Issue Editor
Special Issue Information
Dear Colleagues,
Although the care of acid sphingomyelinase deficiency (ASMD) patients is typically provided by metabolic disease specialists and/or medical geneticists, education of primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) so that they will be able to recognize these patients to provide the appropriate care and referrals is of importance. A better understanding of the presenting features of the disorder, the most appropriate methods to achieve definitive laboratory diagnosis and the natural history of the various forms of the disorder have been further elucidated over the past decade. Similarly, genotype–phenotype correlations have been formulated and the utility of biomarkers of disease severity has been assessed. In addition, various therapeutic approaches to treat the disease have been developed and are being evaluated in clinical trials. The early recognition of patients with ASMD will be important for the initiation of these new therapies in affected patients as they become available.
Prof. Dr. Margaret McGovern
Guest Editor
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Keywords
- acid sphingomyelinase deficiency
- Niemann–Pick disease type B
- Niemann–Pick disease type A
- sphingomyelin
- phosphodiesterase 1 gene (SMPD1)
- lysosomal storage disease
- sphingomyelin
- hepatosplenomegaly
- sphingolipidosis
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