Results 191 to 200 of about 15,263 (240)
Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine. [PDF]
Front Med (Lausanne)Samonenko N +3 more
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Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases. [PDF]
Front NeurolAries C +7 more
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Real-world experience of switching to taliglucerase among patients with Gaucher disease in Québec: A case series. [PDF]
Mol Genet Metab RepRizzolo A +6 more
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Orthopedics, 1987
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
The definition of neuronopathic Gaucher disease [PDF]
Journal of Inherited Metabolic Disease, 2020 Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or ...
Raphaël Schiffmann +2 more
exaly +2 more sources
The Lancet, 2001
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
openaire +3 more sources
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D, Elstein +3 more
openaire +3 more sources
Gaucher Disease and Bone Manifestations
Calcified Tissue International, 2014 Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton.
Gemma Marcucci, Ari Zimran, J A Kanis
exaly +2 more sources
The Indian Journal of Pediatrics, 1973
1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
openaire +2 more sources
1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
openaire +2 more sources
Gastroenterology, 1955
Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
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Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
openaire +2 more sources
Joint Bone Spine, 2008
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
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Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
openaire +2 more sources