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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
doaj   +4 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
doaj   +2 more sources

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

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
doaj   +2 more sources

Gaucher Disease and Gaucher Cells

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

Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey

Orphanet Journal of Rare Diseases, 2023
Background Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the ...
Tanya Collin-Histed, Aviva Rosenberg, Noortje Hopman, Jessica Pacey   +3 more
doaj   +1 more source

Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. [PDF]

PLoS ONE, 2015
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement.
Hila Zigdon, Alon Savidor, Yishai Levin, Anna Meshcheriakova, Raphael Schiffmann, Anthony H Futerman   +5 more
doaj   +1 more source

Gaucher′s disease

Indian Journal of Endocrinology and Metabolism, 2011
Gaucher's disease (GD) is the most common amongst the various disorders classified under the lysosomal storage disorders. GD is a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. The multiorgan and varied presentation of the disease makes it a challenge to diagnose GD early.
Vijay Bohra, Velu Nair
openaire   +4 more sources

Management algorithms for gaucher disease

Journal of Applied Hematology, 2020
INTRODUCTION: Gaucher disease is a challenging disease because of the progressive nature and multiple systems that are involved. Gaucher disease is underdiagnosed in Saudi Arabia. It is sometimes misdiagnosed with other hematological diseases.
Ayman Alhejazi, Abdulkareem AlMomen, Ahmad M Tarawah, Ahmed M AlSuliman, Hussain H Al Saeed, Mahasen Saleh, Marwan ElBagoury, Ohoud F Kashari, Omar M Hussein   +8 more
doaj   +1 more source

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma [PDF]

Journal of Clinical and Diagnostic Research, 2017
Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis.
Jyoti Ramnath Kini, Saraswathy Sreeram, Anupama Hegde, Sowmini Kamath, Radha Ramachandra Pai   +4 more
doaj   +1 more source