ReviewTranslational science of rare diseases2017
Lysosomal storage diseases.
Review in Translational science of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 2 of them syntheses that pooled it.
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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
144 citing papers in PubMed, 2 syntheses or guidelines pooled it, 260 citations in OpenAlex.
- Selective autophagy of intracellular organelles: recent research advances.Theranostics · 2021Pooled it
- Pooled it
- Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile.International journal of molecular sciences · 2026Article
- EHMN2026Metabolites · 2026Article
- A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- From lipofuscin accumulation to cellular dysfunction: a focus on liver pathophysiology.Histochemistry and cell biology · 2026Review
- Impaired lipoprotein secretion by APOE4 leads to lysosomal and mitochondrial dysfunction in human microglia.bioRxiv : the preprint server for biology · 2026Article
- Glycosphingolipids in Dementia: Insights from Mass Spectrometry and Systems Biology Approaches.Biomedicines · 2025Review
- Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.American journal of human genetics · 2025Article
- Article
- Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.Molecular genetics and metabolism · 2025Article
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Macrophage vacuolar ATPase (v-ATPase) function controlsbioRxiv : the preprint server for biology · 2025Article
- An Integrated Platform for High-Throughput Extraction and Mass Spectrometry-Based Quantification of Cholesterol and Sphingosine.Analytical chemistry · 2025Article
- Article
- Article
- A Rare Case of Xanthogranulomatous Osteomyelitis of Radius Presenting as Pathological Fracture - A Case Report.Journal of orthopaedic case reports · 2025Article
- Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.Clinical and translational science · 2025Review
- Targeting Glucosylceramide Synthase: Innovative Drug Repurposing Strategies for Lysosomal Diseases.International journal of molecular sciences · 2025Article
84 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively.
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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.