Results 101 to 110 of about 7,167 (179)

White matter matters in β-glucocerebrosidase-related pathologies. [PDF]

Neural Regen Res
Russo L, Cescon M.
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

Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis. [PDF]

Orphanet J Rare Dis
Liu Y, Luo X, Ranjbar S, Aerts JMFG, van der Lienden M, Dardis A, Fleming RMT.   +6 more
europepmc   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers. [PDF]

Mov Disord
Agin-Liebes J, Haimovich A, Griep R, Hatcher NG, Yao L, Waters C, Padmanabhan S, Alcalay RN.   +7 more
europepmc   +1 more source

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management. [PDF]

J Dermatol
Sakai T.
europepmc   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]

J Cell Biochem
Corazolla EM, Schomakers BV, Trętowicz MM, Hermans J, van Weeghel M, Vaz FM, Pras-Raves ML, Vlugt KG, Beers-Stet FS, Goorden SMI, Jansen-Meijer J, Janssens GE, Hollak CEM, Houtkooper RH, van Kuilenburg ABP.   +14 more
europepmc   +1 more source

Exploring the long-term use of ambroxol in Gaucher disease type 2: insights from two pediatric cases. [PDF]

Front Neurol
Aries C, Köhn A, Täuber K, Rudolph C, Böttcher T, Bauer P, Fischer S, Muschol N.   +7 more
europepmc   +1 more source