ArticleNorth American journal of medicine & science
Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.
Article in North American journal of medicine & science. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Population Pharmacokinetic/Pharmacodynamic Modeling of Therapeutic Enzymes in Lysosomal Storage Diseases.Clinical pharmacokinetics · 2026Pooled it
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- M6PR/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2.The Journal of biological chemistry · 2026Article
- In Situ Differential Analysis of α- and β-Glycosidase Activities in Lysosomes After Internalization Using Glucosylcerebroside-Based Liposomes.International journal of molecular sciences · 2026Article
- Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Article
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.International journal of molecular sciences · 2025Article
- Purifying and profiling lysosomes to expand understanding of lysosomal dysfunction-associated diseases.The Journal of clinical investigation · 2025Article
- Licorice Extract Supplementation Affects Antioxidant Activity, Growth-Related Genes, Lipid Metabolism, and Immune Markers in Broiler Chickens.Life (Basel, Switzerland) · 2022Article
- Current methods to analyze lysosome morphology, positioning, motility and function.Traffic (Copenhagen, Denmark) · 2022Review
- Cytogenetic and Biochemical Genetic Techniques for Personalized Drug Therapy in Europe.Diagnostics (Basel, Switzerland) · 2021Review
- Review
- Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.International journal of molecular sciences · 2020Review
- A Novel PathologicalMolecular syndromology · 2020Article
- Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches.Frontiers in medicine · 2020Review
- Diagnostic methods for Lysosomal Storage Disease.Reports of biochemistry & molecular biology · 2019Article
- Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.Journal of veterinary internal medicineArticle
- Pitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country.Pakistan journal of medical sciencesArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysfunction. Measurement of lysosomal enzyme activity plays an important role in the clinical diagnosis of LSDs. The major enzymatic testing methods include fluorometric assays using artificial 4-methylumbelliferyl (4-MU) substrates, spectrophotometric assays and radioactive assays with radiolabeled natural substrates. As many effective treatment options have become available, presymptomatic diagnosis and early intervention are imperative. Many methods were developed in the past decade for newborn screening (NBS) of selective LSDs in dried blood spot (DBS) specimens. Modified fluorometric assays with 4-MU substrates, MS/MS or LC-MS/MS multiplex enzyme assays, digital microfluidic fluorometric assays, and immune-quantification assays for enzyme contents have been reported in NBS of LSDs, each with its own advantages and limitations. Active technical validation studies and pilot screening studies have been conducted or are ongoing. These studies have provided insight in the efficacy of various methodologies. In this review, technical aspects of the enzyme assays used in clinical diagnosis and NBS are summarized. The important findings from pilot NBS studies are also 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.