Results 211 to 220 of about 29,070 (238)
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Wiener Medizinische Wochenschrift, 2010
Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis of severity and rate of disease progression.
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Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis of severity and rate of disease progression.
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Journal of Inherited Metabolic Disease, 2010
AbstractGaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β‐glucocerebrosidase gene, was recently discovered in sheep on a “Southdown” sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found
Karageorgos, L. +3 more
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AbstractGaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β‐glucocerebrosidase gene, was recently discovered in sheep on a “Southdown” sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found
Karageorgos, L. +3 more
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SPLENECTOMY IN GAUCHER'S DISEASE
Archives of Surgery, 1929The literature on Gaucher's disease, by reason of its comparative paucity, has been kept well abreast of the time. It seems unnecessary to record a review of it. At the Mayo Clinic, in 530 cases in which splenectomy was performed during the period of seventeen years, 1913 to 1929, inclusive, Gaucher's disease was encountered four times.
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The Brain in Gaucher's Disease
Archives of Neurology, 1984To the Editor. —In the article by Daniels et al,1enzymatic studies of brain samples from patients with Gaucher's disease are described. The authors either missed or ignored references to our research, which describes studies of brains from patients with Gaucher's disease.
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Gaucher disease and chitotriosidase
La Revue de Médecine Interne, 2006The course of chitotriosidase levels was studied in 4 patients with type 1 Gaucher disease during treatment or during modifications to dosage or the frequency of administration. It proved to be a good marker of disease progression, before and during treatment.
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The definition of neuronopathic Gaucher disease
Journal of Inherited Metabolic Disease, 2020Raphael Schiffmann +2 more
exaly
Pharmacologic chaperoning as a strategy to treat Gaucher disease
FEBS Journal, 2007Jeffery W Kelly
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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
International Journal of Molecular Sciences, 2017Jérôme Stirnemann +2 more
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