Results 191 to 200 of about 28,810 (212)
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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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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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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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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 ...
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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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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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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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Glucocerebrosidase (Gaucher disease)
Human Mutation, 1996Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but ...
E, Beutler, T, Gelbart
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Wiener Medizinische Wochenschrift, 2010
Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis of severity and rate of disease progression.
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Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis of severity and rate of disease progression.
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