Results 121 to 130 of about 9,175 (221)

Gaucher Disease: an underdiagnosed disorder

, 2011
OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype.
Camila Simões Ferreira, Maria Bernadete J. Araújo, Araújo, Maria Bernadete J., Tannús,Roberta Kazan, Aoqui, William Luiz, Silva,Luis Roberto da, William Luiz Aoqui, Luis Roberto da Silva, Aoqui,William Luiz, Ferreira, Camila Simões [UNIFESP], Araújo,Maria Bernadete J., Tannús, Roberta Kazan, Roberta Kazan Tannús, Ferreira,Camila Simões, Silva, Luis Roberto Da   +14 more
core   +1 more source

Doença de Gaucher e seu tratamento: uma revisão narrativa

, 2021
A doença de Gaucher é uma doença rara, autossómica recessiva, que resulta de uma acumulação anormal de uma substância lipídica, conhecida como glucocerebrosídeo ou glucosilceramida.
Martinho, Sara Isabel da Silva
core  

Gaucher cells and HIV [PDF]

Blood, 2006
openaire   +3 more sources

Multifocal large aggregates of pseudo-Gaucher cells in chronic myeloid leukemia. [PDF]

Blood Res, 2018
Sharma P, Kumar N, Varma N.
europepmc   +1 more source

Review: Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease

, 2015
Gaucher disease (GD) is the most frequently encountered lysosomal storage disease causedby inborn defects of themembrane-bound lysosomal enzyme, acid b-glucosidase or glucocerebrosidase. This defective activity causes an accumulation of glucocerebroside (
Tantawy, AAG
core  

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

, 2007
An approach to treating Gaucher disease is substrate inhibition therapy which seeks to abate the aberrant lysosomal accumulation of glucosylceramide.
Shayman, James A., Grabowski, Gregory A., McEachern, Kerry Anne, Chuang, Wei-Lien, Hutto, Elizabeth, Siegel, Craig S., Cheng, Seng H., Fung, John, Copeland, Diane P., Aerts, Johannes M. F. G., Komarnitsky, Svetlana, Marshall, John   +11 more
core   +1 more source

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

, 2004
Gaucher disease is characterized by storage of glucosylceramide in lysosomes of tissue macrophages as the result of an autosomal recessively inherited deficiency in glucocerebrosidase.
Maas, Mario, Moran, Mary Teresa, de Fost, Maaike, Bleijlevens, Boris, Hollak, Carla E. M., Aerts, Johannes M. F. G., Boven, Leonie A., Cox, Timothy M., Verhoek, Marri, van Breemen, Marielle J., Boot, Rolf G., van Meurs, Marjan, Laman, Jon D.   +12 more
core   +1 more source

Pseudo‐Gaucher cells in sickle cell anemia [PDF]

American Journal of Hematology, 2010
Barbara J, Bain, Lydia, Lee
openaire   +2 more sources

Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models

, 2020
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models Kramer, Gertjan; Wegdam, Wouter; Donker-Koopman, Wilma; Ottenhoff, Roelof; Gaspar, Paulo; Verhoek, Marri; Nelson, Jessica; Gabriel, Tanit ...

core  

Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy

, 2004
Extraosseous extensions of Gaucher-cell deposits simulate malignant diseases. We describe a 65-year-old male with type-I Gaucher disease, confirmed by low leukocyte gluco-cerebrosidase activity, high plasma chitotriosidase, and N370/L444P gene-mutations,
Pantelis, E, Cholongitas, E, Durakis, S, Kaloterakis, A, Filiotou, A, Papadimitriou, C   +5 more
core