ArticleJournal of medical genetics1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 124 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- The role of sphingolipids in heart failure.European heart journal open · 2025Review
- Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease.JIMD reports · 2024Article
- The role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024Article
- A Balance Between Autophagy and Other Cell Death Modalities in Cancer.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).Diagnostics (Basel, Switzerland) · 2021Article
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
- Heat shock proteins and small nucleolar RNAs are dysregulated in a Drosophila model for feline hypertrophic cardiomyopathy.G3 (Bethesda, Md.) · 2021Article
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.Molecular genetics and metabolism · 2020Article
- Glucocerebrosidase: Functions in and Beyond the Lysosome.Journal of clinical medicine · 2020Review
- Comprehensive autophagy evaluation in cardiac disease models.Cardiovascular research · 2020Review
- Sphingolipid Mediators of Myocardial Pathology.Journal of lipid and atherosclerosis · 2020Review
- A case of motor neuron involvement in Gaucher disease.Molecular genetics and metabolism reports · 2019Article
- A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades.Orphanet journal of rare diseases · 2019Article
- Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.Journal of neurology · 2019Article
- Aortic calcification in Gaucher disease: a case report.The application of clinical genetics · 2018Article
- Successful newborn screening for Gaucher disease using fluorometric assay in China.Journal of human genetics · 2017Article
- Lysosomal storage diseases.Translational science of rare diseases · 2017Review
- The Spectrum of Neurological Manifestations Associated with Gaucher Disease.Diseases (Basel, Switzerland) · 2017Review
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10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two patients, and tonic-clonic seizures in the third. The three patients died, two of them after having undergone aortic valve replacement. Tissue was obtained from one of the sibs and fibroblast and liver beta-glucocerebrosidase activity was reduced to 4% and 11% of mean normal values. Genotype analysis indicated that the patient was homozygous for the D409H mutation. It is tempting to relate the phenotype of severe cardiac involvement to the D409H/D409H genotype, although further cases will be needed before this association can be confirmed.
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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.