ReviewInternational journal of molecular sciences2020
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.
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 13 papers.
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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
13 citing papers in PubMed, 22 citations in OpenAlex.
- Review
- Sphingolipid metabolism and hematologic disorders: current understanding and future directions.Frontiers in physiology · 2026Review
- Borylated Five-Membered Ring Iminosugars: Synthesis, Spectroscopic Analysis, and Biological Evaluation for Glycosidase Inhibition and Anticancer Properties for Application in Boron Neutron Capture Therapy (BNCT)-Part 1.Pharmaceuticals (Basel, Switzerland) · 2025Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.Molecular genetics and metabolism · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- Lipid Nanoparticles: A Novel Gene Delivery Technique for Clinical Application.Current issues in molecular biology · 2022Review
- A Novel Variant in theBalkan journal of medical genetics : BJMG · 2022Article
- Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation.International journal of molecular sciences · 2022Review
- Therapeutic Strategies For Tay-Sachs Disease.Frontiers in pharmacology · 2022Review
- The future of newborn screening for lysosomal disorders.Neuroscience letters · 2021Article
- A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.Orphanet journal of rare diseases · 2021Article
- Precision Medicine for Lysosomal Disorders.Biomolecules · 2020Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides. The LSD enzymes responsible for the catabolism are active at acidic pH in the lysosomal compartment. In addition to the classically established lysosomal degradation biochemistry, recent data have suggested that lysosome plays a key role in the autophagy where the fusion of autophagosome and lysosome facilitates the degradation of amino acids. A failure in the lysosomal function leads to a variety of manifestations, including neurovisceral disorders. While affected individuals appear to be normal at birth, they gradually become symptomatic in childhood. Biomarkers for each condition have been well-documented and their proper selection helps to perform accurate clinical diagnoses. Based on the natural history of disorders, it is now evident that the existing treatment becomes most effective when initiated during presymptomatic period. Neonatal screening provides such a platform for inborn error of metabolism in general and is now expanding to LSDs as well. These are implemented in some areas and countries, including Taiwan and the U.S. In this short review, we will discuss several issues on some selected biomarkers for LSDs involving Fabry, Niemann-Pick disease type C, mucopolysaccharidosis, and oligosaccharidosis, with a focus on mass spectrometry application to biomarker discovery and detection.
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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.