Results 151 to 160 of about 9,175 (221)

Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Mol Genet Metab
Minea C, Deegan PB.
europepmc   +1 more source

Establishment of an N-Glycan Profiling Method for Three ERT Enzymes Used in Gaucher Disease Therapy. [PDF]

Molecules
Chen J, Hu X, Wang L, Xu K, Li J, Wang Y, Liang C.   +6 more
europepmc   +1 more source

Addressing kyphoscoliosis in Gaucher's disease: a multidisciplinary approach to a rare case. [PDF]

BMC Musculoskelet Disord
Guo J, Zhang L, Lv C, Bai T, Shao J, Xi Y.   +5 more
europepmc   +1 more source

Multidrug resistance and myelomonocytic leukaemia in gaucher's disease

, 2003
Ganeshaguru, K, Baker, R, Mehta, AB, Richfield, L, Krishnan, B   +4 more
core  

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes. [PDF]

Orphanet J Rare Dis
Kilavuz S, Wallom KL, Caçote ACGAA, Donald A, D'Amore S, Page K, Tan CY, Te Vruchte D, Sturchio A, Tsitsi P, Hertz E, Andréasson M, Markaki I, Svenningsson P, Cox TM, Platt FM, MRC GAUCHERITE Consortium.   +16 more
europepmc   +1 more source

Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease. [PDF]

Life (Basel)
İnci A, Aydoğdu Demirel S, Ergin FBC, Biberoğlu G, Okur İ, Ezgü FS, Tümer L, Öktem RM, Dökmeci S.   +8 more
europepmc   +1 more source

Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China. [PDF]

J Clin Med
Zhou Y, Hao Z, Zhuang Q, Han B.
europepmc   +1 more source

The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea. [PDF]

Orphanet J Rare Dis
Hahn SM, Kim M, Kim Y, Oh J, Kim SH, Koh H, Kim SE, Chung NG, Shim YJ, Kim H, Lee JM, Yoon SS, Im HJ, Kang HJ, Do YR, Nam CM, Lyu CJ.   +16 more
europepmc   +1 more source

Genomic Structural Equation Modeling Provides an Initial View of the Genetic Architecture Related to Type 1 Gaucher Disease. [PDF]

Hum Mutat
Ren S, Du M, Liu J, Li B, Liu J, Lang X.
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source