ArticleJournal of medical genetics1996
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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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Who cites it
11 citing papers in PubMed, 59 citations in OpenAlex.
- Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially HumanizedFrontiers in genetics · 2022Article
- Lysosomal storage diseases.Translational science of rare diseases · 2017Review
- The clinical management of Type 2 Gaucher disease.Molecular genetics and metabolism · 2015Review
- Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.World journal of pediatrics : WJP · 2011Article
- Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Blood cells, molecules & diseases · 2011Review
- Lysosomal storage disorders in the newborn.Pediatrics · 2009Review
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.Molecular genetics and metabolism · 2008Article
- Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.The American journal of pathology · 2003Article
- Type 2 Gaucher disease: the collodion baby phenotype revisited.Archives of disease in childhood. Fetal and neonatal edition · 2000Article
- Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.The Journal of clinical investigation · 1999Article
- Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.
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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.