ReviewJournal of inherited metabolic disease2001
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?
Review in Journal of inherited metabolic disease, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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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
9 citing papers in PubMed, 30 citations in OpenAlex.
- High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.European journal of neurology · 2025Article
- Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.PLoS biology · 2023Article
- Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Human mutation · 2017Article
- Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Oncotarget · 2017Article
- A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents.Journal of molecular medicine (Berlin, Germany) · 2016Article
- A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation.EMBO molecular medicine · 2012Article
- Proteomics of the lysosome.Biochimica et biophysica acta · 2009Review
- Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.Molecular genetics and metabolism · 2008Article
- Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
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
No grant is acknowledged in the PubMed record.
Abstract
Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases are characterized by their marked clinical heterogeneity. Even in the complete absence of a functional enzyme, presentation may be variable, depending on the patient's genetic background and on a range of epigenetic and environmental factors. Further difficulties in predicting disease severity and progression from the genotype arise from the rarity of these disorders, the low enzyme levels required for a normal phenotype and the relative lack of understanding of the pathophysiology of LSDs.
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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.