ReviewJournal of inherited metabolic disease2004
Enzyme replacement and enhancement therapies for lysosomal diseases.
Review in Journal of inherited metabolic disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed, 220 citations in OpenAlex.
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Journal of medical genetics · 2017Trial
- Fucosidosis: A Review of a Rare Disease.International journal of molecular sciences · 2025Review
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT.The Journal of experimental medicine · 2022Article
- Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries.Molecular genetics and metabolism reports · 2021Article
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
- Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy.Biomolecules · 2020Article
- The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.Human genetics · 2020Article
- Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.Molecular genetics and metabolism · 2020Article
- The Challenge of Modulating Heparan Sulfate Turnover by Multitarget Heparin Derivatives.Molecules (Basel, Switzerland) · 2020Review
- Immunomodulatory, liver depot gene therapy for Pompe disease.Cellular immunology · 2019Review
- Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.Orphanet journal of rare diseases · 2018Article
- Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.Science translational medicine · 2017Article
- Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Advanced drug delivery reviews · 2017Review
- The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Small molecules as therapeutic agents for inborn errors of metabolism.Journal of inherited metabolic disease · 2017Review
- Vision of correction for classic homocystinuria.The Journal of clinical investigation · 2016Article
- Substrate and Substrate-Mimetic Chaperone Binding Sites in Human α-Galactosidase A Revealed by Affinity-Mass Spectrometry.Journal of the American Society for Mass Spectrometry · 2016Article
- A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.Molecular genetics and metabolism · 2016Article
- Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice.The Journal of investigative dermatology · 2015Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Although first suggested by de Duve in 1964, enzyme replacement therapy (ERT) for lysosomal storage diseases did not become a reality until the early 1990s when its safety and effectiveness were demonstrated in type 1 Gaucher disease. Today, ERT is a reality for Gaucher disease, Fabry disease and mucopolysaccharidosis type I (MPS I), and clinical trials with recombinant human enzymes are ongoing in Pompe disease, MPS II and MPS VI, and are about to begin in Neimann-Pick B disease. In addition to ERT, enzyme enhancement therapy (EET) offers a novel therapeutic strategy to increase the residual function of mutant proteins. EET employs small molecules as 'pharmacological chaperones' to rescue misfolded and/or unstable mutant enzymes or proteins that have residual function. EET also offers the possibility of treating neurodegenerative lysosomal disorders since these small therapeutic molecules may cross the blood-brain barrier. The current status of ERT and the prospects for EET for lysosomal storage diseases are reviewed.
Indexed as
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.