Results 71 to 80 of about 10,573,620 (195)
Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
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Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
Journal of Contemporary Medicine, 2020 Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
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Journal of Obstetrics and Gynaecology, 2009 Gaucher disease (GD) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal β-glucocerebrosidase and subsequent accumulation of glucosylceramide (GlcCer) in cells of the reticuloen...
A M, Mamopoulos +3 more
openaire +2 more sources
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
Doença de Gaucher na gravidez.
Acta Médica Portuguesa, 1997 A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana +5 more
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The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, EarlyView.Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease
American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain +10 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl +2 more
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Diabetes, Obesity and Metabolism, Volume 28, Issue 9, Page 8277-8287, September 2026.ABSTRACT Aims Treatment options for metabolic dysfunction‐associated steatotic liver disease (MASLD) are limited. While glucagon‐like peptide‐1 receptor agonists (GLP‐1 RA) and sodium‐glucose cotransporter‐2 (SGLT‐2) inhibitors improve cardiovascular outcomes, comparative effectiveness on liver‐related outcomes remains unclear.
Gregor A. Maier +4 more
wiley +1 more source
Impaired gait kinematics in type 1 Gaucher’s Disease
Journal of Parkinson’s Disease, 2016 Type 1 Gaucher’s disease (GD1) is traditionally regarded as “non-neurological”. Spatiotemporal and kinematic analysis of gait was carried on thirteen GD1 patients and thirteen healthy controls.
Pierpaolo Sorrentino +8 more
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