Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease [PDF]
, 2016 Miguel Ángel Torralba +6 more
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Necrosis avascular de cabeza femoral en pacientes con enfermedad de Gaucher tipo I : tratamiento mediante artroplastia total de cadera no cementada [PDF]
, 2017 El 80% de los pacientes con enfermedad de Gaucher presentan manifestaciones óseas, siendo la necrosis avascular de la cabeza femoral una de las que mayor limitación produce y la primera causa de intervención quirúrgica osteoarticular.
Blas Dobón, J.A. +4 more
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Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report)
, 2008 Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase).
Davarian, A., Mirbehbahani, N.B.
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Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients [PDF]
, 2000 Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid alpha-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid â-glucosidase ...
Amaral, O. +4 more
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Mitochondrial dysfunction associated with glucocerebrosidase deficiency [PDF]
, 2016 The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder.
Gegg, ME, Schapira, AH
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Arimoclomol as a potential therapy for neuronopathic Gaucher Disease [PDF]
, 2018 Cathrine Kolster Fog-Tonnesen +10 more
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INDUCTION OF TOLERANCE BY ORAL ADMINISTRATION OF FACTOR VIII AND TREATMENT OF HEMOPHILA [PDF]
, 2011 Disclosed herein is a simple method for the treatment of antigen-deficiency diseases, by orally administering to a Subject a therapeutically effective amount of the deficient anti gen, wherein the antigen is not present in a liposome.
Alpan, Oral +3 more
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Demography and profile of Gaucher disease in Argentina and Paraguay [PDF]
, 2002 Mario Carlos Aggio +2 more
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