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Journals and Conferences
The objective of this study was to evaluate the efficacy and safety of low-dose substrate balance therapy with OGT 918 for the treatment of adults with Gaucher disease. Eighteen patients with Gaucher disease from two centers were enrolled in an open-label 6-month study of OGT 918, 50 mg taken three times daily (TID), followed by an optional extended-use… (More)
N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB-DNJ in patients with Gaucher's disease demonstrate the therapeutic potential of such substrate inhibitors in the glycolipid storage… (More)
Taliglucerase alfa (Protalix Biotherapeutics, Carmiel, Israel) is a novel plant cell-derived recombinant human β-glucocerebrosidase for Gaucher disease. A phase 3, double-blind, randomized, parallel-group, comparison-dose (30 vs 60 U/kg body weight/infusion) multinational clinical trial was undertaken. Institutional review board approvals were received. A… (More)
Gaucher disease (GD) is caused by mutations in the glucocerebrocidase gene (GBA) and presents with variable severity. Type 1 is characterized by the lack of neurological symptoms in childhood, whereas types 2 and 3 are early onset neuronopathic forms and result in premature death. Only type 1 GD has been reported in black South Africans and the cases are… (More)
BACKGROUND The principal manifestations of type 1 Gaucher disease (GD) (increased risk of bleeding, anaemia, splenomegaly, hepatomegaly and bone disease) are likely to affect females during reproductive events such as menarche and menstruation; fertility, pregnancy, parity, delivery and lactation; and menopause. In order to determine the optimal management… (More)
Histiocytosis X may present in a variety of ways. We report a patient who presented with the unusual feature of infiltration of the hepatic duct with histiocytes, manifesting as biliary atresia.
BACKGROUND Gaucher disease is the most common lysosomal storage disorder caused by the insufficiency of the lysosomal enzyme, glucocerebrosidase. This deficiency results in absent or inefficient conversion of glucocerebroside (a membrane lipid) to ceramide and glucose. Accumulation of glucocerebroside occurs primarily in macrophage lysosomes (i.e. monocytes… (More)
Spontaneous iliofemoral arterial occlusion in a 28-hour-old infant is described. A good result was obtained with conservative management. Early diagnosis and prompt therapy will prevent the loss of potentially salvageable limbs.
BACKGROUND Gaucher disease is an autosomal recessive lysosomal glycosphingolipid storage disorder resulting from a deficiency of lysosomal enzyme acid β-glucosidase (glucocerebrosidase). This partial enzyme deficiency results in accumulation of glycosphingolipid-laden macrophages (Gaucher cells) throughout the liver, spleen, bone marrow, skeleton, lungs and… (More)
Gaucher disease is a relentless progressive multi-systemic disorder caused by deficiency or inadequate function of lysosomal β-glucocerebrosidase. The resultant accumulation of the substrate glucocerebroside causes the organ damage. The classic clinical picture of organomegaly, cytopenia and bone pain or disease should always alert the practitioner and… (More)