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• W2003111390 abstract "Type 1 Gaucher disease is the most common lysosomal storage disease and the most common genetic disorder among persons of Ashkenazi Jewish descent. It is caused by deficiency of the enzyme glucocerebrosidase, which is necessary for the intralysosomal catabolism of glucocerebroside (GC), and is inherited in an autosomal recessive fashion. 1. Brady R.O. Kanfer J.N. Shapiro D. Metabolism of glucocerebrosides, II. Evidence of an enzymatic deficiency in Gaucher disease. Biochem Biophys Res Commun. 1965; 18: 221-225 Crossref PubMed Scopus (578) Google Scholar , 2. Patrick A.D. Short communications: a deficiency of glucocerebrosidase in Gaucher disease. Biochem J. 1965; 97: 17C-18C PubMed Google Scholar This results in accumulation of GC (most of which is derived from phagocytosed cell membranes) in the lysosomes of monocyte-derived macrophages in tissues of the reticuloendothelial system. 3. Desnick R.J. Gaucher disease: a century of delineation and understanding. Prog Clin Biol Res. 1982; 95: 1-30 PubMed Google Scholar , 4. Parkin J.L. Brunning R.D. Pathology of the Gaucher cell. Prog Clin Biol Res. 1982; 95: 150-175 Google Scholar Accumulation in the Kupffer cells of the liver and in splenic macrophages is associated with enlargement of these organs. The resulting hypersplenism produces progressive anemia and thrombocytopenia. Accumulation of GC in bone marrow is associated with osteopenia, lytic lesions, pathologic fractures, chronic bone pain, acute episodes of excruciating “bone crisis,” bone infarcts, and osteonecrosis. Although anemia and thrombocytopenia may be severe, it is usually bone disease that results in the greatest morbidity and long-term disability." @default.
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• W2003111390 date "2004-01-01" @default.
• W2003111390 modified "2023-10-13" @default.
• W2003111390 title "Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations" @default.
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• W2003111390 doi "https://doi.org/10.1016/j.jpeds.2003.10.067" @default.
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