ReviewJournal of inherited metabolic disease2014
Treatment of lysosomal storage disorders: successes and challenges.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed.
- Design of Potent Mannose-6-Phosphate Derivatives as Ligands for CI-M6P/IGF2R Using Fluorescence Polarization Assay.Chemistry (Weinheim an der Bergstrasse, Germany) · 2025Article
- CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.Current gene therapy · 2025Review
- Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke.Neurology. Genetics · 2024Review
- Changing clinical manifestations of Gaucher disease in Taiwan.Orphanet journal of rare diseases · 2023Article
- Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.Orphanet journal of rare diseases · 2022Article
- Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I-A Mini-Review.International journal of molecular sciences · 2022Review
- Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.Molecular genetics & genomic medicine · 2020Article
- Article
- CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.Frontiers in molecular biosciences · 2020Review
- Oncogenic effects of germline variants in lysosomal storage disease genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses.Molecular therapy. Methods & clinical development · 2018Article
- Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Genes · 2018Review
- Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Orphanet journal of rare diseases · 2018Article
- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.JIMD reports · 2018Article
- The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Metabolic brain disease · 2017Article
- Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.BBA clinical · 2017Article
- Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.Clinical chemistry · 2017Article
- Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression.Gene therapy · 2017Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Treatment options for a number of lysosomal storage disorders have rapidly expanded and currently include enzyme replacement therapy, substrate reduction, chaperone treatment, hematopoietic stem cell transplantation, and gene-therapy. Combination treatments are also explored. Most therapies are not curative but change the phenotypic expression of the disease. The effectiveness of treatment varies considerably between the different diseases, but also between sub-groups of patients with a specific lysosomal storage disorder. The heterogeneity of the patient populations complicates the prediction of benefits of therapy, specifically in patients with milder disease manifestations. In addition, there is a lack of data on the natural history of diseases and disease phenotypes. Initial trial data show benefits on relevant short-term endpoints, but the real world situation may reveal different outcomes. Collaborative international studies are much needed to study the long-term clinical efficacy of treatments, and to detect new complications or associated conditions of the diseases. This review summarizes the available treatment modalities for lysosomal storage disorders and the challenges associated with long term clinical care for these patients.
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