Results 81 to 90 of about 2,368 (129)

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

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

Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report. [PDF]

J Med Case Rep
Keikhaei B, Mafakher L.
europepmc   +1 more source

Does Amyotrophic Lateral Sclerosis (ALS) Have Metabolic Causes from Human Evolution? [PDF]

Cells
Spedding M.
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

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

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. [PDF]

Mov Disord
Parlar SC, Lee Y, Gan-Or Z.
europepmc   +1 more source

Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions. [PDF]

Orphanet J Rare Dis
Aragón DPP, Collin-Histed T, Abdelwahab M, Espinosa JV, Chertkoff R, Balzekiene A, Pacey J.   +6 more
europepmc   +1 more source

Lipid accumulation drives cellular senescence in dopaminergic neurons. [PDF]

Aging (Albany NY)
Russo T, Riessland M.
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

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies. [PDF]

Orphanet J Rare Dis
Vinci M, Giacomarra M, D'Errico A, Fischetto R, Palumbo G, Tartaglione I, Tirelli P, Messina E, Russo M, Francofonte D, Colomba P, Duro G, Zizzo C.   +12 more
europepmc   +1 more source