Results 201 to 210 of about 15,263 (240)
Some of the next articles are maybe not open access.
2013
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an
Cyril, Mignot +2 more
openaire +2 more sources
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an
Cyril, Mignot +2 more
openaire +2 more sources
Current Opinion in Hematology, 1988
Many mutations affecting the glucocerebrosidase gene have been defined as causes of the glycolipid storage disorder, Gaucher disease. These correlate to a certain extent with the clinical course of the disease. Studies of the natural history of Gaucher disease show that progression is usually very slow. Pulmonary involvement, usually regarded as a very
openaire +4 more sources
Many mutations affecting the glucocerebrosidase gene have been defined as causes of the glycolipid storage disorder, Gaucher disease. These correlate to a certain extent with the clinical course of the disease. Studies of the natural history of Gaucher disease show that progression is usually very slow. Pulmonary involvement, usually regarded as a very
openaire +4 more sources
New England Journal of Medicine, 1991
PHYSICIANS often regard Gaucher's disease as a rare, esoteric, untreatable disorder. Fortunately, the more severe forms of the disease are indeed quite uncommon, but milder forms of Gaucher's disease are encountered frequently, particularly in the Jewish population.
Jane F. Desforges, Ernest Beutler
openaire +3 more sources
PHYSICIANS often regard Gaucher's disease as a rare, esoteric, untreatable disorder. Fortunately, the more severe forms of the disease are indeed quite uncommon, but milder forms of Gaucher's disease are encountered frequently, particularly in the Jewish population.
Jane F. Desforges, Ernest Beutler
openaire +3 more sources
Oral Surgery, Oral Medicine, Oral Pathology, 1957
Summary A case of Gaucher's disease in a 19-year-old Jewish girl has been described. The diagnosis was made only because of the oral surgeon's insistence that a complete examination be done, despite the lack of clinical symtoms. It is apropos to repeat Shira's 13 conclusions in his article entitled “Manifestations of Systemic Disorders in the ...
openaire +3 more sources
Summary A case of Gaucher's disease in a 19-year-old Jewish girl has been described. The diagnosis was made only because of the oral surgeon's insistence that a complete examination be done, despite the lack of clinical symtoms. It is apropos to repeat Shira's 13 conclusions in his article entitled “Manifestations of Systemic Disorders in the ...
openaire +3 more sources
European Journal of Obstetrics & Gynecology and Reproductive Biology, 1999
An 18-year old woman with type I Gaucher disease and two uncomplicated pregnancies is described. Although she experienced one miscarriage and pregnancy was associated with exaggeration of the clinical symptoms, leading to the diagnosis of the disorder, both her 2nd and 3rd pregnancies were uneventful and deterioration of her clinical situation was not ...
N, Sakarelou +4 more
openaire +2 more sources
An 18-year old woman with type I Gaucher disease and two uncomplicated pregnancies is described. Although she experienced one miscarriage and pregnancy was associated with exaggeration of the clinical symptoms, leading to the diagnosis of the disorder, both her 2nd and 3rd pregnancies were uneventful and deterioration of her clinical situation was not ...
N, Sakarelou +4 more
openaire +2 more sources
Pediatric Drugs, 2002
Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
openaire +2 more sources
Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
openaire +2 more sources
Journal of Pediatric Biochemistry, 2016
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
openaire +2 more sources
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
openaire +2 more sources
A microassay for Gaucher's disease
Clinica Chimica Acta, 1975We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta ...
S P, Peters, R E, Lee, R H, Glew
openaire +2 more sources
American Journal of Ophthalmology, 2005
Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease.Observational case reports.Review of all patients in a large referral clinic for Gaucher's disease for incidence of uveitis.Two ...
Altoon, Dweck +4 more
openaire +2 more sources
Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease.Observational case reports.Review of all patients in a large referral clinic for Gaucher's disease for incidence of uveitis.Two ...
Altoon, Dweck +4 more
openaire +2 more sources
Critical Reviews in Oncogenesis, 2013
Gaucher disease (GD), the commonest lysosomal storage disorder, is an autosomal recessive condition, caused by deficiency in lysosomal glucocerebrosidase. Skeletal disease, peripheral blood cytopenias and hepato-splenomegaly are common at presentation. Several reports describe an increased risk of cancer in GD; in particular multiple myeloma.
Robert, Ayto, Derralynn A, Hughes
openaire +2 more sources
Gaucher disease (GD), the commonest lysosomal storage disorder, is an autosomal recessive condition, caused by deficiency in lysosomal glucocerebrosidase. Skeletal disease, peripheral blood cytopenias and hepato-splenomegaly are common at presentation. Several reports describe an increased risk of cancer in GD; in particular multiple myeloma.
Robert, Ayto, Derralynn A, Hughes
openaire +2 more sources