Results 151 to 160 of about 15,263 (240)

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

From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. [PDF]

Int J Mol Sci
Casazza K, Kartha RV, Jarnes JR.
europepmc   +1 more source

Gaucher Disease-Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters. [PDF]

Metabolites
D'Amore S, Patel S, Cooke J, Ramaswami U.   +3 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

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

The c-Abl-RIPK3 Axis Drives Mitochondrial Dysfunction and Impaired Mitophagy in Gaucher Disease Models. [PDF]

Antioxidants (Basel)
Lamaizon CM, Tironi-Hernández R, Arévalo NB, Ahumada SD, Gutiérrez DA, Brito-Fernández L, Del Campo A, Zanlungo S, Álvarez AR.   +8 more
europepmc   +1 more source

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
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

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source