Results 151 to 160 of about 12,191 (186)
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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
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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
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Gaucher's disease and pregnancy
European Journal of Obstetrics & Gynecology and Reproductive Biology, 1996A 24-year-old primigravid woman with adult type Gaucher's disease was admitted at 28 weeks of pregnancy. She was asthenic and the abdomen was markedly protuberant due to hepatosplenomegaly. A conservative approach with close monitorization of both mother and baby was planned.
A, Ayhan, Z S, Tuncer, H, Simşek
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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
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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
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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
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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
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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
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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
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Gaucher disease and chitotriosidase
La Revue de Médecine Interne, 2006The course of chitotriosidase levels was studied in 4 patients with type 1 Gaucher disease during treatment or during modifications to dosage or the frequency of administration. It proved to be a good marker of disease progression, before and during treatment.
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Gaucher's disease in pregnancy
American Journal of Obstetrics and Gynecology, 1957Abstract We have presented this case of Gaucher's disease complicating pregnancy because review of the available literature provides little guidance in the management of this problem. We feel that our experience with this case may be of some value in substantiating the belief that the prognosis for a successful outcome of pregnancy and delivery may ...
J B, TETON, N C, TREADWELL
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Thrombocytopenia in Gaucher's Disease
Annals of Internal Medicine, 1971Abstract A 63-year-old man with Gaucher's disease presented with bleeding secondary to thrombocytopenia.
D, Green +3 more
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Annals of Pharmacotherapy, 1996
OBJECTIVE: To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. DATA SOURCES: a MEDLINE search (from 1984 to July 1995) of ...
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OBJECTIVE: To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. DATA SOURCES: a MEDLINE search (from 1984 to July 1995) of ...
openaire +2 more sources