Results 181 to 190 of about 11,713 (255)

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.

, 1982
Edward I. Ginns, Roscoe O. Brady, Samuel J. Pirruccello, Christopher Hudson Moore, Susan H. Sorrell, F S Furbish, Gary J. Murray, J. M. Tager, J. A. Barranger   +8 more
openalex   +2 more sources

Sidransky Syndrome-<i>GBA1</i>-Related Parkinson's Disease and Its Targeted Therapies. [PDF]

Int J Mol Sci
Istaiti M, Yahalom G, Cohen M, Skrahina V, Skrahin A, Lukas J, Rolfs A, Zimran A.   +7 more
europepmc   +1 more source

Transduction, Expression, and Secretion of Human Glucocerebrosidase by Murine Myoblasts [PDF]

, 1994
VIJAYA BANSAL, Patricia Mowery‐Rushton, Lorrie Lucht, Juan Li, Alfred B. Bahnson, Simon C. Watkins, John A. Barranger   +6 more
openalex   +1 more source

In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling [PDF]

, 2017
Jeroen van Smeden, Irini M. Dijkhoff, Richard W.J. Helder, Hanin Al-Khakany, Daphne E.C. Boer, Anne Schreuder, Wouter W. Kallemeijn, Samira Absalah, Herman S. Overkleeft, Johannes M. F. G. Aerts, Joke A. Bouwstra   +10 more
openalex   +1 more source

Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China. [PDF]

Front Pediatr
Maimaititusvn G, Kulaixi M, Atawula A, Liu F.   +3 more
europepmc   +1 more source

Cytotoxic lymphocyte effector function is unaffected in patients with Gaucher disease. [PDF]

Front Immunol
Zou J, Noori T, Walterfang M, Szer J, Trapani JA, Voskoboinik I.   +5 more
europepmc   +1 more source

Gaucher disease, state of the art and perspectives. [PDF]

J Intern Med
Camou F, Berger MG.
europepmc   +1 more source

Glucocerebrosidase Activity Modulates Neuronal Susceptibility to Pathological α-Synuclein Insult

Neuron, 2019
Michael X. Henderson, Samantha Sedor, Ian McGeary, Eli J. Cornblath, Chao Peng, Dawn M. Riddle, Howard L. Li, Bin Zhang, Hannah J. Brown, Modupe F. Olufemi, D. Bassett, J. Trojanowski, V. Lee   +12 more
semanticscholar   +1 more source

Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome. [PDF]

Pediatr Nephrol
Gehad MH, Youssef DM, Mokhtar WA, Fathy MM, Gohary A.   +4 more
europepmc   +1 more source