Results 31 to 40 of about 5,175,842 (164)

From Gaucher disease to Parkinson Disease: a new light on the lysosome

, 2022
Gaucher disease type 1 is a lysosomal storage disease with hematological and bone involvement and visceromegaly. Until about twenty years ago it was commonly accepted that neurological involvement could only occur in the most severe forms, type 2 and ...
De Roux Serratrice, Christine
core   +1 more source

An unusual form of Gaucher’s disease: pulmonary and cardiovascular involvement and cholelitiasis

Open Medicine, 2010
Ceyhan Meltem, Celik Fatma, Elmali Muzaffer, Gurmen Nevzat   +3 more
doaj   +2 more sources

Gaucher’s Disease – What Should You Know [PDF]

Gaucher’s Disease (GD) has a special place among ultra-rare diseases, which is a disease that occurs in less than onein 50 000 persons. The disease is caused by a hereditary autosomal deficiency of the lysosomal enzyme glucocerebrosidase.
Podgórska, Dominika, Sanecki, Miłosz, Chojnacka, Natalia, Jurasz, Karolina, Tomczyk, Karolina, Rzeska, Ewa, Cymer, Radosław, Klarycki, Jakub   +7 more
core   +3 more sources

Metabolic Changes Following Splenic Transplantation in a Case of Gaucher’s Disease

, 1972
The fact that the highest activity of glucocerebrosidase is normally found in the spleen (2) has suggested the possibility of splenic transplantation as a means of enzyme replacement in Gaucher’s disease (1).
Carl G. Groth, Rolf Blomstrand, Ockerman, P-A, Svennerholm, L, Groth, CG, Blomstrand, R, Lars Svennerholm, Samuelsson, K, Lars Hagenfeldt, Per-Arne Ockerman, Karin Samuelsson, Hagenfeldt, L   +11 more
core   +1 more source

OSTEOBLASTOMA OF THE HUMERUS ASSOCIATED WITH TYPE-I GAUCHER’S DISEASE

, 1996
We report a unique case of juxtacortical osteoblastoma of the humeral shaft, which simulated the appearance of an extraosseous extension of Gaucher-cell deposits. The tumour was treated successfully by curettage and bone grafting.
G. Pastores, G. Hermann, S. Kenan, M. Klein, I. F. Abdelwahab   +4 more
core   +1 more source

Clinical Manifestations of Type 1 Gaucher Disease [PDF]

, 2012
 How to Cite this Article: Salehpour Sh. Clinical Manifestations of Type 1 Gaucher Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):13-14.pls see PDF.References 1. Beutler E, Grabowski GA. Gaucher disease.
SALEHPOUR, Shadab
core   +1 more source

Screening for Gaucher's Disease in unexplained splenomegaly and/or thrombocytopenia: An observational study [PDF]

, 2021
Introduction: Gaucher’s disease is a hereditary disease that can be diagnosed by determination of acid β glucosidase enzyme activity on leucocytes but it’s diagnosis is mostly delayed due to limited availability of test.To determine prevalence of Gaucher’
Tak, Himangi, Parihar, Kamlesh, Gupta, Ashok, Tak, Himani   +3 more
core   +1 more source

Splenic lipids in Gaucher's disease

Journal of Lipid Research, 1968
Column chromatography (on cellulose, silicic acid, and Florisil) and thin-layer chromatography were employed for the separation and purification of lipid fractions from normal and Gaucher spleens.
N.G. Kennaway, L.I. Woolf
doaj   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Studies of the pathogenesis of Gaucher's disease: tissue distribution and biliary excretion of [14C]L-glucosylceramide in rats

Journal of Lipid Research, 1987
The time course of the clearance from the blood and the tissue localization of [14C]L-glucosylceramide, a nonmetabolizable enantiomorph of D-glucosylceramide that accumulates in Gaucher's disease, has been determined.
T Tokoro, A E Gal, L L Gallo, R O Brady
doaj   +1 more source