Spontaneous decrease of spleen size in a patient with type 1 Gaucher's disease
Haematologica, 1998 We present a patient with type 1 Gaucher's disease in whom the spleen size during 34 years of follow-up reached a maximum of 6 cm. below the costal margin, but in 1993 began to decrease spontaneously and presently can no longer be felt by abdominal ...
M Djaldetti +4 more
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Gaucher's Disease in an Adult Female: A Rare Entity. [PDF]
Cureus, 2021 Kannauje PK +4 more
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CHANGES IN THE HEAD OF THE FEMUR IN CHILDREN SUFFERING FROM GAUCHER'S DISEASE
, 1952 1. Two children suffering from Gaucher's disease, who developed changes in the femoral head typical of Perthes' disease, are reported. Similar changes have been recorded in the literature in seventeen children under the age of fifteen years. 2.
R. McL. Todd, S. E. Keidan
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Lipid-mimicking phosphorus-based glycosidase inactivators as pharmacological chaperones for the treatment of Gaucher's disease. [PDF]
Chem Sci, 2021 Scherer M +6 more
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, 1994 There are few reports of experiences with hip arthroplasty in patients with Gaucher's disease. Review of the literature shows a high rate of loosening after any type of arthroplasty.
van Wellen, P.A. +3 more
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Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. [PDF]
J Blood Med, 2021 Giraldo P, Andrade-Campos M.
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Pathology of Gaucher's disease.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974 A review of the pathology of t 2 cases of non-neuronopathic type Gaucher's disease, diagnosed over a 38-year period, t 935 to 1973, is presented. One of these patients is described in detail and an unusual association with a splenic epidermoid cyst in an unaffected sibling is documented.
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Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings [PDF]
, 1987 CITATION: Swart, A. L., Hesseling, P. B. & Hayden, M. R. 1987. Gaucher's disease in the Cape Coloured population of the RSA, including a family with 5 affected siblings.
Swart, A. L. +2 more
core
An improved fluorometric leukocyte [beta]-glucosidase assay for Gaucher's disease
, 1981 Three fluorometric leukocyte [beta]-glucosidase assays were compared for their ability to diagnose Gaucher's disease and identify carriers of the disorder: the acid [beta]-glucosidase assay of Beutler and Kuhl [2], a pH 5.5-sodium taurocholate-dependent ...
Daniels, Lydia B. +4 more
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Gaucher’s Disease – current state of knowledge and future perspectives?
Journal of Education, Health and SportIntroduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in
Katarzyna Szymańska +7 more
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