Results 151 to 160 of about 9,202 (225)

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

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

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

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

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

Clinical Utility of <i>GBA</i> Genotyping Prior to Deep Brain Stimulation: A Narrative Review. [PDF]

Genes (Basel)
Rački V, Lasić S, Ðerke F, Belančić A, Sošić M.   +4 more
europepmc   +1 more source

Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population. [PDF]

Cureus
Powline DG, P G, Das T, Sahu S, Joel SM, Joy P.   +5 more
europepmc   +1 more source

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report. [PDF]

Front Pediatr
Ma M, Wu N, Feng J, Sang X, Duan F, Li C, Zhang Q.   +6 more
europepmc   +1 more source