Results 31 to 40 of about 10,573,620 (195)
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
The Turkish Journal of Pediatrics, 1961 Two cases of Gaucher’s disease are reported, one of them being the acute infantile form and the other apparently the adult type. The first case had no evidence of neurologic symptoms and died under two years of age at home.
Vedat Sezer, Mithat Çoruh
doaj +1 more source
Gaucher’s Disease with Rare Genotype- A Case Report [PDF]
National Journal of Laboratory Medicine, 2021 Gaucher’s Disease (GD) is a rare inherited Lysosomal Storage Disorder (LSD) caused by autosomal recessive inheritance of homozygous mutations in the Glucocerebrosidase (GBA) gene encoding the lysosomal enzyme acid β-glucosidase.
Mangesh M Londhe, Tushar V Patil
doaj +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 to infants with severe neurodegeneration.
Makaila L. Furderer +3 more
openaire +2 more sources
Nature Communications, 2023 GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Pascale Baden +16 more
doaj +1 more source
Педиатрическая фармакология, 2013 The article gives data on epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher’s disease in children; it also gives criteria of differential diagnostics with other diseases.
O. S. Gundobina +4 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
Педиатрическая фармакология, 2014 The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina +2 more
doaj +1 more source
Педиатрическая фармакология, 2014 The article is dedicated to modern approaches to treatment of Gaucher’s disease. The authors list the primary aspects of the disease and present data on the origin and introduction of pathogenetic enzyme replacement therapy to clinical practice.
O. S. Gundobina +3 more
doaj +1 more source
Chemoenzymatic Synthesis of Well‐Defined α(2,8)‐ and α(2,9)‐Linked Oligosialosides
Angewandte Chemie, EarlyView.Well‐defined α(2,8)‐ and α(2,9)‐linked oligosialic acids of different lengths can be prepared by employing recombinant bacterial polysialyltransferases in combination with chemically modified CMP‐Neu5Ac derivatives. After transfer, a sialoside is formed bearing an artificial entity, which blocks further glycosylation.
Jelle A. Fok +4 more
wiley +2 more sources