Gaucher Disease Type 3
What's New
Last Posted: Sep 16, 2023
- Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Filipa Curado, et al. Diagnostics (Basel, Switzerland) 2023 0 (17) - Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Wilke Matheus V M B, et al. Orphanet journal of rare diseases 2019 0 (1) 103 - Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.
Avenali Micol, et al. Journal of neurology, neurosurgery, and psychiatry 2019 0 (10) 1091-1097 - Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Abell Katherine, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 0 (4) 1052-1059 - Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
Nair Shiny, et al. Molecular genetics and metabolism 2020 0 (4) 286-291 - Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).
Lazea Cecilia, et al. Diagnostics (Basel, Switzerland) 2021 0 (6) - Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects.
Serratrice Christine, et al. Joint bone spine 2016 0 (1) 71-77 - Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1.
Zimmermann Anca, et al. Therapeutics and clinical risk management 2018 0 2069-2080 - Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.
Abdelwahab Magy, et al. Neurology. Genetics 2016 4 (2) e55 - Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Torralba M A, et al. QJM : monthly journal of the Association of Physicians 2016 1 - [Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation].
Lukina K A, et al. Terapevticheski? arkhiv 2013 0 (7) 72-5 - Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.
Adelino Talita E R, et al. JIMD reports 2013 0 85-91 - Gaucher disease type 1
From NCATS Genetic and Rare Diseases Information Center - Gaucher disease type 2
From NCATS Genetic and Rare Diseases Information Center - Gaucher disease type 3
From NCATS Genetic and Rare Diseases Information Center - Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
Sobreira Elisa, et al. Molecular genetics and metabolism 2007 1 (1) 81-6
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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