نتایج جستجو برای: gaucher type 1
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Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a rela...
Gaucher disease is the most prevalent inherited sphingolipidosis (1). It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait (2). Three clinical forms of Gaucher disease have been described: Type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (1). The gene frequency of Gaucher disease in the Jewish populatio...
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Gaucher disease is a recessively inherited lysosomal storage disorder that is caused by a deficiency in glucocerebrosidase activity. The clinical expression is markedly heterogeneous with respect to age of onset, progression, severity, and neurological involvement. The relative incidence of glucocerebrosidase (GC) mutations has been studied extensively for Jewish but not for non-Jewish Caucasia...
BACKGROUND Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinica...
Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing avasculer osteo necrosis, especially children young adults. The aim this study draw attention increase awareness. Material Methods: All medical records 8 patients diagnosed with between 2008 2020 our...
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