Results 21 to 30 of about 2,490 (187)
A familial concurrence of schizophrenia and Gaucher's disease
Annals of General Psychiatry, 2007 Background Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings.
Siomos Konstantinos E +2 more
doaj +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 +5 more
wiley +1 more source
Spine Surgery and Related Research, 2017 Introduction: Gaucher's disease is a congenital metabolic disorder characterized by the accumulation of glucocerebroside in the reticuloendothelial system. Its clinical manifestations include splenomegaly, osteopenia, and pathological fractures. Cases of
Kenyu Ito +6 more
doaj +1 more source
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders
Biomedicines, 2022 We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene.
Valerio Napolioni +13 more
doaj +1 more source
Neurobiology of Disease, 2019 Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease. We previously reported a marked increase in miR-155 transcript levels and early microglial activation in a zebrafish ...
Lisa Watson +9 more
doaj +1 more source
Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]
, 2013 Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R. +18 more
core +1 more source
The Practicality of Family screening for Gaucher disease among first- and second-degree relatives: an effective diagnostic approach in high consanguinity [PDF]
Journal of Epigenetics, 2023 Gaucher Disease occurs more frequently in the offspring of familial marriages. With a wide variety of presentations, the long list of tests required to confirm GD in addition to those needed to rule out others puts a heavy financial burden on the ...
Majid Naderi +3 more
doaj +1 more source
Gaucher's disease: Report of a case
Siriraj Medical Journal, 2023 The first adult case of Gaucher's disease in Thailand was reported. The diagnosis was based on hepatosplenomegaly and Gaucher's cells in the bone marrow without any evidence of leukaemia.
Vicharn Panich +2 more
doaj
From Gaucher disease to Parkinson Disease: a new light on the lysosome
, 2022 Gaucher disease type 1 is a lysosomal storage disease with hematological and bone involvement and visceromegaly. Until about twenty years ago it was commonly accepted that neurological involvement could only occur in the most severe forms, type 2 and ...
De Roux Serratrice, Christine
core +1 more source
Gaucher’s Disease in Lithuania: Its Diagnosis and Treatment
, 2011 Gaucher’s disease is a lysosomal storage disease caused by the lack of beta-glucocerebrosidase enzyme, leading to the accumulation of glucocerebroside. Gaucher’s disease is the most frequent type of sphingolipidosis as well as the most frequent lysosomal
Gražina Kleinotienė +2 more
core +1 more source