Results 1 to 10 of about 9,391,147 (295)

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Molecular Genetics and Metabolism Reports, 2021
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG ...
Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, Pramod K. Mistry   +11 more
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Gaucher Disease

Haematology, 2017
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected.
G. Petur Nielsen, Andrew E. Rosenberg, Vikram Deshpande, Francis J. Hornicek, Susan V. Kattapuram, Daniel I. Rosenthal   +5 more
semanticscholar   +4 more sources

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BMC Medical Genetics, 2019
Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid ...
Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth   +22 more
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Gaucher Disease [PDF]

Einstein (São Paulo), 2007
Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, beta-glucocerebrosidase, earmark these proteins for destruction by the ...
Guilherme Henrique Hencklain Fonseca, Paulo Augusto Achucarro Silveira   +1 more
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Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease [PDF]

Haematologica, 2018
Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow.
Thibaud Lefèbvre, Niloofar Reihani, Raêd Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rosé, Yves Colin, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim   +10 more
openalex   +2 more sources

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

Folia Histochemica et Cytobiologica, 2011
The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska, Tomasz Gromek, Anna Tylki-Szymańska, Waldemar Tomczak, Barbara Czartoryska, Danuta Skomra, Bożena Sokołowska   +6 more
doaj   +2 more sources

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes [PDF]

Orphanet Journal of Rare Diseases
Background Gaucher disease (GD) is a lysosomal disease caused by mutations in the GBA1 gene, leading to glucosylceramide and glucosylsphingosine accumulation.
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, Aimée Donald, Simona D’Amore, Kathy Page, Chong Yew Tan, Danielle te Vruchte, Andrea Sturchio, Panagiota Tsitsi, Ellen Hertz, Mattias Andréasson, Ioanna Markaki, Per Svenningsson, Timothy M. Cox, Frances M. Platt, the MRC GAUCHERITE Consortium   +16 more
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Spanish consensus on managing pregnancy in women with Gaucher disease [PDF]

Orphanet Journal of Rare Diseases
Gaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn.
Enrique J. Calderón, Alicia Rodríguez-Fernández, Irene Calderón-Baturone, Rafael Aporta-Rodríguez, Francisco J. del Castillo, Lutgardo García-Díaz, Antonio González-Meneses, María Lourdes Hermosín-Ramos, Raquel Yahyaoui, Ignacio Marín-León   +9 more
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a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.

PLoS ONE, 2023
It is well established that patients with Gaucher disease, as well as carriers of the disease have an increased risk for developing Parkinson's disease.
Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria M J Ferraz, Aristotelis Xenakis, Johannes M F G Aerts, Leonidas Stefanis, Helen Michelakakis   +7 more
doaj   +2 more sources

Gaucher Disease and Gaucher Cells

Turkish Journal of Hematology, 2015
Sevgi Gözdaşoğlu
doaj   +2 more sources