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BiomedicinesGaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche
Maria del Mar Meijon-Ortigueira +10 more
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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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Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report. [PDF]
J Orthop Case Rep, 2022 Rahman SH +5 more
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Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher's disease using diffusion tensor imaging. [PDF]
Abdom Radiol (NY), 2022 Alnaghy E, Razek AA, Abdelhalim E.
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Inheritance in Gaucher's Disease [PDF]
BMJ, 1964 H, GERKEN, E, GRAUCOB, H R, WIEDEMANN
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Impact of Gba2 on neuronopathic Gaucher's disease and α-synuclein accumulation in medaka (Oryzias latipes). [PDF]
Mol Brain, 2021 Nakanishi E +10 more
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Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
Journal of Clinical Investigation, 1966 R. Brady +3 more
semanticscholar +1 more source
Pregnancy and Gaucher's Disease [PDF]
BMJ, 1953 Y M, BROMBERG, R, TOAFF, D, DIENGOTT
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