Results 11 to 20 of about 28,810 (212)

Dental profile of patients with Gaucher disease [PDF]

BMC Oral Health, 2003
Background This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities.
Mann Jonathan, Sgan-Cohen Harold, Elstein Deborah, Fischman Stuart L, Zimran Ari   +4 more
doaj   +2 more sources

A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy

Case Reports in Gastroenterology, 2021
Gaucher disease is a rare genetic disorder caused by the deficiency of acid β-glucosidase to effectively catalyze the degradation of glucosylceramide to glucose and ceramide.
Naoto Komada, Toshinari Fujiwara, Hideyuki Yoshizumi, Hiroyuki Ida, Kazuya Shimoda   +4 more
doaj   +1 more source

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease [PDF]

, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Acosta, Walter, Aflaki, Elma, Behre, Bahafta, Burnett, Robert A, Cramer, Carole, Dutra, Amalia, Fujiwara, Hideji, Ginns, Edward I, Hendrix, An, Jung, Olive, Lindstrom, Taylor, Nguyen, Matthew, Ory, Daniel S, Pak, Evgenia, Pavan, William J, Renvoise, Benoit, Rodriguez-Gil, Jorge L, Sidhu, Rohini, Sidransky, Ellen, Siebert, Marina, Tamargo, Rafael, Tayebi, Nahid, Westbroek, Wendy   +22 more
core   +7 more sources

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]

, 2018
Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L, Foà, R, Giona, F, Mariani, S, Palumbo, G, Santopietro, M   +5 more
core   +1 more source

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

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

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

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

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