ArticleReports of biochemistry & molecular biology2019
Diagnostic methods for Lysosomal Storage Disease.
Article in Reports of biochemistry & molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Article
- SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.Orphanet journal of rare diseases · 2025Observational
- Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.Biomedicines · 2025Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- Novel Mutation in the FelineAnimals : an open access journal from MDPI · 2023Article
- Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.Frontiers in genetics · 2023Article
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- Potential Composite Digenic Contribution ofGenes · 2022Article
- Current methods to analyze lysosome morphology, positioning, motility and function.Traffic (Copenhagen, Denmark) · 2022Review
- Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.Life (Basel, Switzerland) · 2022Review
- Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory.EJIFCC · 2022Article
- A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.Genes · 2021Article
- Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Genes · 2021Article
- Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe.Diagnostics (Basel, Switzerland) · 2021Review
- Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage disorders (LSD) are a class of metabolic disturbance in which manifested by the accumulation of large molecules (complex lipids, glycoproteins, glycosaminoglycans, etc.) in lysosomes. LSDs have a wide range of clinical symptoms that may contain organ dysfunction, neurological and skeletal disorders. The first stage of diagnosis is clinically suspected by a physician. Next stage is enzyme activity assays including Fluorometry and MS/MS methods. These methods usually placed in newborn program screening. The second laboratory diagnostic stage is molecular examination (RFLP-PCR and ARMS-PCR, Mutations Scanning Methods, DNA sequencing, MLPA and NGS methods) that is confirmation of the enzyme assays. In this article, routine diagnostic methods for LSDs were discussed. The gold standard for enzyme activity assay and molecular diagnosis is TMS and NGS, respectively.
Indexed as
Identifiers
30805390PMC6374068What 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.