Results 271 to 280 of about 9,391,147 (295)
Some of the next articles are maybe not open access.
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
openaire +3 more sources
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 +3 more sources
Current Opinion in Hematology, 1988
Many mutations affecting the glucocerebrosidase gene have been defined as causes of the glycolipid storage disorder, Gaucher disease. These correlate to a certain extent with the clinical course of the disease. Studies of the natural history of Gaucher disease show that progression is usually very slow. Pulmonary involvement, usually regarded as a very
openaire +4 more sources
Many mutations affecting the glucocerebrosidase gene have been defined as causes of the glycolipid storage disorder, Gaucher disease. These correlate to a certain extent with the clinical course of the disease. Studies of the natural history of Gaucher disease show that progression is usually very slow. Pulmonary involvement, usually regarded as a very
openaire +4 more sources
Expanding the clinical utility of glucosylsphingosine for Gaucher disease
Journal of Inherited Metabolic Disease, 2019Gaucher disease (GD) is an inherited metabolic disorder characterised by impaired catabolism of the glycosphingolipid, glucosylceramide. The deacetylated derivative, glucosylsphingosine (GluSph, lyso‐Gb1) has materialised as a biomarker for GD.
Jennifer T. Saville +4 more
semanticscholar +1 more source
Oral Surgery, Oral Medicine, Oral Pathology, 1957
Summary A case of Gaucher's disease in a 19-year-old Jewish girl has been described. The diagnosis was made only because of the oral surgeon's insistence that a complete examination be done, despite the lack of clinical symtoms. It is apropos to repeat Shira's 13 conclusions in his article entitled “Manifestations of Systemic Disorders in the ...
openaire +3 more sources
Summary A case of Gaucher's disease in a 19-year-old Jewish girl has been described. The diagnosis was made only because of the oral surgeon's insistence that a complete examination be done, despite the lack of clinical symtoms. It is apropos to repeat Shira's 13 conclusions in his article entitled “Manifestations of Systemic Disorders in the ...
openaire +3 more sources
Journal of Pediatric Biochemistry, 2016
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
openaire +2 more sources
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
openaire +2 more sources
2013
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an
Cyril, Mignot +2 more
openaire +2 more sources
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an
Cyril, Mignot +2 more
openaire +2 more sources
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder
British Journal of Ophthalmology, 2019Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the subsequent accumulation of the enzyme’s metabolites, principally glucosylsphingosine and glucosylceramide.
Aaron W. Winter +3 more
semanticscholar +1 more source
Pediatric Drugs, 2002
Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
openaire +2 more sources
Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
openaire +2 more sources
Glucocerebrosidase (Gaucher disease)
Human Mutation, 1996Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but ...
E, Beutler, T, Gelbart
openaire +2 more sources
Gaucher disease – more than just a rare lipid storage disease
Journal of molecular medicine, 2022Jaehyeok Roh +3 more
semanticscholar +1 more source