ArticleMolecular genetics and metabolism2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 50 citations in OpenAlex.
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.Journal of child neurology · 2025Article
- Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.Communications medicine · 2025Article
- Exploring the multilayered response of TB bacterium Mycobacterial tuberculosis to lysosomal injury.FEMS microbiology reviews · 2025Review
- Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.Communications medicine · 2025Article
- Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model.Communications medicine · 2024Article
- Boolean Modeling of Biological Network Applied to Protein-Protein Interaction Network of Autism Patients.Biology · 2024Article
- Biochemical signatures of disease severity in multiple sulfatase deficiency.Journal of inherited metabolic disease · 2024Article
- Association between SUMF1 polymorphisms and COVID-19 severity.BMC genomic data · 2023Article
- Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.Pharmaceutics · 2023Review
- Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.BMC pediatrics · 2023Article
- Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.EMBO molecular medicine · 2023Article
- The effect of intravenous trehalose administration in a patient with multiple sulfatase deficiency.Archives of medical science : AMS · 2023Article
- Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.Journal of clinical laboratory analysis · 2022Article
- Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.Case reports in genetics · 2022Article
- Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy.Pediatric neurology · 2021Article
- Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.JIMD reports · 2021Article
- Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.Case reports in pediatrics · 2021Article
- Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.Journal of inherited metabolic disease · 2020Article
Corrections and comments
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Authors and funding
18 authors at 10 institutions in 4 countries.
Funding
Abstract
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype that has not been fully characterized to date. In this report, we describe two individuals with distinct clinical presentations of MSD. Also, we detail a comprehensive systems-based approach to the management of individuals with MSD, from the initial diagnostic evaluation to unique multisystem issues and potential management options. As there have been no natural history studies to date, the recommendations within this report are based on published studies and consensus opinion and underscore the need for future research on evidence-based outcomes to improve management of children with MSD.
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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.