Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 13 (of 13 Records) |
Query Trace: Gaucher Disease Type 3[original query] |
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Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world. Molecular genetics and metabolism 2007 Jan 90 (1): 81-6. Sobreira Elisa, Pires Ricardo F, Cizmarik Marta, Grabowski Gregory |
Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene. JIMD reports 2013 9 85-91. Adelino Talita E R, Martins Gustavo G, Gomes Aretta A A, Torres Adriana A, Silva Daniel A S, Xavier Vinícius D O, Guimarães João Paulo O, Araújo Sérgio S S, Fernandes Rachel A F, Oliveira Maria Christina L A, Godard Ana Lúcia B, Valadares Eugênia |
[Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation]. Terapevticheski? arkhiv 2013 85 (7): 72-5. Lukina K A, Fevraleva I S, Sysoeva E P, Mamonov B E, Sudarikov A B, Lukina E |
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt. Neurology. Genetics 2016 Apr 2 (2): e55. Abdelwahab Magy, Blankenship Derek, Schiffmann Rapha |
Prevalence of autoantibodies in the course of Gaucher disease type 1: A multicenter study comparing Gaucher disease patients to healthy subjects. Joint bone spine 2016 12 85 (1): 71-77. Serratrice Christine, Bensalah Nesma, Penaranda Guillaume, Bardin Nathalie, Belmatoug Nadia, Masseau Agathe, Rose Christian, Lidove Olivier, Camou Fabrice, Maillot François, Leguy Vanessa, Magy-Bertrand Nadine, Marie Isabelle, Cherin Patrick, Bengherbia Monia, Carballo Sebastian, Boucraut José, Serratrice Jacques, Berger Marc, Verrot Den |
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. QJM : monthly journal of the Association of Physicians 2016 Jan . Torralba M A, Olivera S, Bureo J C, Dalmau J, Nuñez R, León P, Villarrubia |
Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1. Therapeutics and clinical risk management 2018 14 2069-2080. Zimmermann Anca, Popp Radu A, Rossmann Heidi, Bucerzan Simona, Nascu Ioana, Leucuta Daniel, Weber Matthias M, Grigorescu-Sido Pau |
Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study. Journal of neurology, neurosurgery, and psychiatry 2019 6 90 (10): 1091-1097. Avenali Micol, Toffoli Marco, Mullin Stephen, McNeil Alisdair, Hughes Derralynn A, Mehta A, Blandini Fabio, Schapira Anthony H |
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. Orphanet journal of rare diseases 2019 5 14 (1): 103. Wilke Matheus V M B, Dornelles Alícia D, Schuh Artur S, Vairo Filippo P, Basgalupp Suelen P, Siebert Marina, Nalin Tatiele, Piltcher Otavio B, Schwartz Ida V |
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular genetics and metabolism 2020 2 129 (4): 286-291. Nair Shiny, Bar Noffar, Xu Mina L, Dhodapkar Madhav, Mistry Pramod |
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. American journal of medical genetics. Part C, Seminars in medical genetics 2020 12 184 (4): 1052-1059. Abell Katherine, Chadwell Sarah E, Burrow Thomas Andrew, Becker Ana Paula Pizzio, Bailey Laurie, Steele Paul, Zhang Xue, Islas-Ohlmayer Miguel, Bittencourt Rosane, Schwartz Ida Vanessa Doederlein, Prada Carlos |
Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study). Diagnostics (Basel, Switzerland) 2021 6 11 (6): . Lazea Cecilia, Bucerzan Simona, Al-Khzouz Camelia, Zimmermann Anca, Vesa ?tefan Cristian, Na?cu Ioana, Cre? Victoria, Cri?an Mirela, As?voaie Carmen, Miclea Diana, Grigorescu-Sido Pau |
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. Diagnostics (Basel, Switzerland) 2023 9 13 (17): . Filipa Curado, Sabine Rösner, Susanne Zielke, Gina Westphal, Ulrike Grittner, Volha Skrahina, Mohammed Alasel, Ahmad Mehmood Malik, Christian Beetz, Tobias Böttcher, Gal Barel, Ashish Prasad Sah, Tama Dinur, Nadeem Anjum, Quidad Ichraf, Yamna Kriouile, Zahra Hadipour, Fatemeh Hadipour, Shoshana Revel-Vilk, Claudia Cozma, Jörg Hartkamp, Huma Cheema, Ari Zimran, Peter Bauer, Arndt Rolfs, |
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