Results 141 to 150 of about 12,191 (186)
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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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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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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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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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Gaucher's Disease and Pregnancy
American Journal of Perinatology, 1998Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, which is required for the lysosomal degradation of glycolipids. The clinical manifestations of the disease show a large heterogeneity, including hepatosplenomegaly, "bone crisis" and fracture, anemia, thrombocytopenia and,
S J, Fasouliotis, Y, Ezra, J G, Schenker
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Gaucher's Disease in Pregnancy
Obstetrical & Gynecological Survey, 1996Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, important for the physiologic recycling of cell membrane lipids. The clinical symptoms and disease presentations of Gaucher's disease are heterogeneous, including hepatosplenomegaly, bone "crisis" and fracture, anemia ...
J S, Rosnes +3 more
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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 Inherited Metabolic Disease, 2008
SummaryGaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute ...
Li-Kai, Tsai +3 more
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SummaryGaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute ...
Li-Kai, Tsai +3 more
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