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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of itsExpand
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The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically inExpand
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A new model of experimental prosthetic joint infection due to methicillin-resistant Staphylococcus aureus: a microbiologic, histopathologic, and magnetic resonance imaging characterization.
Partial knee arthroplasty was done in rabbits with a silicone-elastomer implant. Immediately after closing the surgical wound, 5 x 10(6) cfu of methicillin-resistant Staphylococcus aureus wasExpand
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Bone events and evolution of biologic markers in Gaucher disease before and during treatment
IntroductionKnown biomarkers of Gaucher-disease activity are platelets, chitotriosidase, angiotensin-converting enzyme (ACE), tartrate-resistant acid phosphatase (TRAP) and ferritin. The aim of thisExpand
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Gastrointestinal disturbances and their management in miglustat-treated patients
Miglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is unsuitable, and for the treatmentExpand
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Parvovirus B19 Infection Can Induce Histiocytic Necrotizing Lymphadenitis (Kikuchi's Disease) Associated with Systemic Lupus Erythematosus
We report three cases of systemic lupus erythematosus (SLE) associated with necrotizing histiocytic lymphadenitis (Kikuchi's disease) and immunologically proven human parvovirus B19 infection.Expand
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Anti-Scl-70 antibodies detected by immunoblotting in progressive systemic sclerosis: specificity and clinical correlations.
One hundred and forty five serum samples from patients with a connective tissue disease and 30 serum samples from healthy blood donors were analysed by immunoblotting. The presence of anti-Scl-70,Expand
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Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment.
BACKGROUND Earlier results highlighted hyperferritinemia during type-1 Gaucher disease (GD), but its potential mechanisms and long-term progression remained unexamined. METHODS We analyzed theExpand
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Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Gaucher disease is the first lysosomal disorder for which clinically effective enzyme replacement therapy has been introduced. Lifelong treatment with imiglucerase, the recombinant glucocerebrosidaseExpand
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Comparative study of postoperative and spontaneous pyogenic spondylodiscitis.
OBJECTIVES Postoperative spondylodiscitis (POS) is poorly characterized, partly owing to its rarity. The aim of this prospective study was to compare the clinical, biological, bacteriological, andExpand
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