Results 11 to 20 of about 29,070 (238)

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Orphanet Journal of Rare Diseases, 2020
Background Neurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy.
Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider   +9 more
doaj   +1 more source

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation. [PDF]

J Intern Med
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Beydon M, Stirnemann J, Yousfi K, Zebiche S, Hamroun D, Brassier A, Pichard S, Swiader L, de Villemeur TB, Héron B, Dalbies F, Cador B, Guemann AS, Gaches F, Hivert B, Leguy-Seguin V, Masseau A, Pers YM, Pettazzoni M, Bekri S, Caillaud C, Guillou EL, Szymanowski M, Astudillo L, Mauhin W, Nadjar Y, Serratrice C, Berger MG, Camou F, Belmatoug N, Nguyen Y, French Evaluation of Gaucher Disease Treatment Committee.   +31 more
europepmc   +2 more sources

Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]

, 2016
Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J, Brill-Almon, Einat, Chertkoff, Raul, Giraldo, Pilar, Pastores, Gregory M, Petakov, Milan, Rosenbaum, Hanna, Shankar, Suma P, Szer, Jeffrey, Zimran, Ari   +9 more
core   +2 more sources

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Progressive pulmonary hypertension in a patient with type 1 Gaucher disease [PDF]

Терапевтический архив, 2017
Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the ...
R V Ponomarev, S V Model, O M Averbukh, A M Gavrilov, G M Galstyan, E A Lukina   +5 more
doaj   +1 more source

Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease

罕见病研究, 2022
Objective Quantitative imaging evaluation was performed on the liver and spleen system lesions of patients with Gaucher disease after treatment. in order to deepen the understanding of Gaucher disease.
LI Di, TAO Xiaojuan, ZHANG Ningning, HUO Aihua, HU Di, LYU Yanqiu, ZHANG Yonghong, PENG Yun   +7 more
doaj   +1 more source

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

, 2019
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N, Bembi , B, Bright, J, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Kuter, David, Lukina, EA, Machaczka, M, Mehta, Atul, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri , B, Pastores, G, Pérez-López, J, Ramaswami, U, Salek, Mir-Saeed Shayegan, Schwartz, IV, Szer, J, Vom Dahl, S, Weinreb, NJ, Zimran, A   +24 more
core   +6 more sources

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 to infants with severe neurodegeneration.
Makaila L. Furderer, Ellen Hertz, Grisel J. Lopez, Ellen Sidransky   +3 more
openaire   +2 more sources

Lung Involvement in Gaucher Disease

Case Reports in Clinical Practice, 2020
Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome.
Mahnaz Pejman Sani, Keivan Gohari Moghadam, Mahbube Ebrahimpur   +2 more
doaj   +1 more source

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

Diseases, 2023
We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic
Veroniki Komninaka, Pagona Flevari, Georgios Karkaletsis, Theodoros Androutsakos, Theofili Karkaletsi, Ioannis Ntanasis-Stathopoulos, Evaggelia-Eleni Ntelaki, Evangelos Terpos   +7 more
doaj   +1 more source