Results 11 to 20 of about 9,391,147 (295)

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative [PDF]

Internal medicine journal (Print), 2019
Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable ...
A. Mehta, D. Kuter, S. Salek, N. Belmatoug, B. Bembi, J. Bright, S. vom Dahl, F. Deodato, M. Di Rocco, Ozlem Göker-Alpan, D. Hughes, E. Lukina, M. Machaczka, E. Mengel, A. Nagral, Kimitoshi Nakamura, A. Narita, B. Oliveri, G. Pastores, J. Pérez-López, U. Ramaswami, I. Schwartz, J. Szer, N. Weinreb, A. Zimran   +24 more
semanticscholar   +8 more sources

Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease [PDF]

Scientific Reports, 2018
Gaucher disease is a lysosomal storage disease characterized by the malfunction of glucocerebrosidase resulting in the accumulation of glucosylceramide and other sphingolipids in certain cells.
G. Batta, Lilla Soltész, Tamás Kovács, Tamás Bozó, Z. Mészár, M. Kellermayer, J. Szöllősi, P. Nagy   +7 more
semanticscholar   +4 more sources

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1

Orphanet Journal of Rare Diseases, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its deacylated ...
A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease   +11 more
semanticscholar   +1 more source

Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism

International Journal of Molecular Sciences, 2022
Deficient acid β-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults ...
Makaila L Furderer, E. Hertz, G. Lopez, E. Sidransky   +3 more
semanticscholar   +1 more source

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

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

American journal of hematology/oncology, 2021
Eliglustat, an oral substrate reduction therapy, is approved for eligible adults with Gaucher disease type 1. In the Phase 3 ENGAGE trial of previously untreated adults with Gaucher disease type 1, eliglustat‐treated patients had statistically ...
P. Mistry, E. Lukina, H. Ben Turkia, S. Shankar, H. Feldman, M. Ghosn, A. Mehta, S. Packman, H. Lau, M. Petakov, S. Assouline, M. Balwani, S. Danda, E. Hadjiev, Andrés Ortega, M. Foster, Sebastiaan J. M. Gaemers, M. J. Peterschmitt   +17 more
semanticscholar   +1 more source

In-depth phenotyping for clinical stratification of Gaucher disease

Orphanet Journal of Rare Diseases, 2021
Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder.
S. D'Amore, K. Page, A. Donald, Khadijeh Taiyari, Brian D. M. Tom, P. Deegan, C. Y. Tan, K. Poole, S. Jones, A. Mehta, D. Hughes, Reena Sharma, R. Lachmann, A. Chakrapani, T. Geberhiwot, S. Santra, S. Banka, T. M. Cox, T. M. F. M. S. A. P. B. T. D. A. S. R. H. S. R. A. Cox Platt Banka Chakrapani Deegan Geberhiwot Hughe, T. M. Cox, F. Platt, S. Banka, A. Chakrapani, P. Deegan, T. Geberhiwot, D. Hughes, S. Jones, R. Lachmann, S. Santra, R. Sharma, A. Vellodi   +30 more
semanticscholar   +1 more source

Current and emerging pharmacotherapy for Gaucher disease in pediatric populations

Expert Opinion on Pharmacotherapy, 2021
Introduction The past decades have witnessed a remarkable improvement in the health of patients with Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, resulting from the availability of enzyme replacement and substrate
Richard Sam, Emory Ryan, Emily C Daykin, E. Sidransky   +3 more
semanticscholar   +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

Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study [PDF]

, 2012
BACKGROUND: Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in patients with stable type 1 ...
Timothy M. Cox, Dominick Amato, Carla E. M. Hollak, Cecile Paquet Luzy, Mariabeth Silkey, R. Giorgino, Robert D. Steiner, for the Miglustat Maintenance Study Group   +7 more
openalex   +4 more sources