Results 141 to 150 of about 2,332 (156)
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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
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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
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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
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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 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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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 ...
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Journal of Inherited Metabolic Disease, 2010
AbstractGaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β‐glucocerebrosidase gene, was recently discovered in sheep on a “Southdown” sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found
Karageorgos, L. +3 more
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AbstractGaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β‐glucocerebrosidase gene, was recently discovered in sheep on a “Southdown” sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found
Karageorgos, L. +3 more
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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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