Results 171 to 180 of about 10,573,620 (195)

The Brain in Gaucher's Disease

Archives of Neurology, 1984
To 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.
openaire   +2 more sources

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

The Lancet, 2000
T. Cox, R. Lachmann, C. Hollak, J. Aerts, S. van Weely, M. Hřebíček, F. Platt, T. Butters, R. Dwek, C. Moyses, I. Gow, D. Elstein, A. Zimran   +12 more
semanticscholar   +1 more source

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Biochemical and Biophysical Research Communications - BBRC, 1965
R. Brady, J. Kanfer, D. Shapiro
semanticscholar   +1 more source

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.

The Lancet, 2015
T. Cox, G. Drelichman, R. Cravo, M. Balwani, T. Burrow, A. Martins, E. Lukina, B. Rosenbloom, Leorah Ross, Jennifer Angell, A. Puga   +10 more
semanticscholar   +1 more source

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.

New England Journal of Medicine, 1987
Shoji Tsuji, P. Choudary, Brian M. Martin, B. Stubblefield, J. Mayor, J. Barranger, E. Ginns   +6 more
semanticscholar   +1 more source

RIPK3 as a potential therapeutic target for Gaucher's disease

Nature Medicine, 2014
Einat. B. Vitner, Ran Salomon, T. Farfel-Becker, A. Meshcheriakova, Mohammad Ali, A. Klein, F. Platt, T. Cox, A. Futerman   +8 more
semanticscholar   +1 more source

Prediction of severity of Gaucher's disease by identification of mutations at DNA level.

The Lancet, 1989
A. Zimran, E. Gross, C. West, Joseph A. Sorge, M. Kubitz, Ernest Beutler   +5 more
semanticscholar   +1 more source

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.

Jornal de Pediatria, 2001
G. Altarescu, S. Hill, E. Wiggs, N. Jeffries, C. Kreps, C. Parker, R. Brady, N. Barton, R. Schiffmann   +8 more
semanticscholar   +1 more source

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.

Journal of Laboratory and Clinical Medicine, 1970
E. Beutler, W. Kuhl
semanticscholar   +1 more source

Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature.

American Journal of Medicine, 1977
E. Schneider, C. Epstein, M. Kaback, D. Brandes   +3 more
semanticscholar   +1 more source