ReviewGenetics in medicine : official journal of the American College of Medical Genetics2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center.Molecular genetics and metabolism reports · 2026Article
- Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.JIMD reports · 2026Article
- Screening for acid sphingomyelinase deficiency in patients with an interstitial lung disease.Orphanet journal of rare diseases · 2026Article
- Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.Diseases (Basel, Switzerland) · 2026Review
- A suspicion index tool to aid the diagnosis and treatment of ASMD.Orphanet journal of rare diseases · 2026Article
- Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup.Molecular genetics and metabolism reports · 2026Article
- Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.Molecular genetics & genomic medicine · 2026Article
- Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study.Orphanet journal of rare diseases · 2026Article
- Review
- Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt.Molecular and cellular pediatrics · 2025Article
- Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study.Molecular genetics and metabolism reports · 2025Article
- Advanced strategies for detecting acid sphingomyelinase deficiency type B with attenuated phenotypes.Orphanet journal of rare diseases · 2025Article
- A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.Journal of hematopathology · 2025Article
- From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.Frontiers in pediatrics · 2025Article
- Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.International journal of neonatal screening · 2024Article
- Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report.Molecular genetics and metabolism reports · 2024Article
- Acid sphingomyelinase deficiency in France: a retrospective survival study.Orphanet journal of rare diseases · 2024Article
- A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.Orphanet journal of rare diseases · 2024Observational
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 10 institutions in 6 countries.
Funding
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 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.
backgroundAcid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement. PURPOSE AND
methodsAn international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes.
conclusionsAlthough 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.