ReviewInternational journal of molecular sciences2020
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 56 citations in OpenAlex.
- Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study.Molecular genetics and metabolism reports · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Multi-omics reveals the immune and metabolic characteristics and associations in non-mucinous ovarian cancer.Journal of ovarian research · 2025Article
- Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency.Journal of applied genetics · 2025Article
- 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
- Optimization of Automated Dimethylmethylene Blue Assay for Quantification of Pediatric Urine Samples.Indian journal of clinical biochemistry : IJCB · 2024Article
- The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.Diagnostics (Basel, Switzerland) · 2024Review
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.Molecular genetics and metabolism · 2024Review
- Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.Journal of clinical medicine · 2024Review
- The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency.Cerebellum (London, England) · 2023Article
- Association between SUMF1 polymorphisms and COVID-19 severity.BMC genomic data · 2023Article
- Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.BMC pediatrics · 2023Article
- The Biology of Lysosomes: From Order to Disorder.Biomedicines · 2023Review
- Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency.Journal of clinical laboratory analysis · 2022Article
- Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.International journal of molecular sciences · 2022Review
- Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases.Molecular therapy. Methods & clinical development · 2022Review
- Review
- The Role of Sulfation in Nematode Development and Phenotypic Plasticity.Frontiers in molecular biosciences · 2022Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other sulfatase deficiencies. MSD is caused by impaired posttranslational activation of sulfatases through the formylglycine generating enzyme (FGE) encoded by the sulfatase modifying factor 1 (
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Identifiers
What OpenQuestion holds
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.