Results 191 to 200 of about 29,070 (238)
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New England Journal of Medicine, 1987
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
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Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
The Lancet, 2001
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
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Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
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Gastroenterology, 1955
Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
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Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
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The Indian Journal of Pediatrics, 1973
1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
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1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
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Joint Bone Spine, 2008
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
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Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
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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
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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
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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
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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
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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
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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
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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 ...
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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
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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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