Results 111 to 120 of about 12,191 (186)

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target. [PDF]

J Cell Mol Med
Ardizzone A, Lanza M, Capra AP, Casili G, Bulzomì M, Luca F, Paterniti I, Campolo M, Esposito E.   +8 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

A CASE OF GAUCHER'S DISEASE

Nihon Naika Gakkai Zasshi, 1961
OTSUKI, Atsumu, HATA, Haruo, SAITO, Kazuya, YAMAMOTO, Takeshige   +3 more
openaire   +3 more sources

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

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

Longitudinal Evaluation of Neurological and Sensory Changes in Gaucher Disease: A Prospective Observational Cohort Study (SENOPRO). [PDF]

Med Sci (Basel)
Cerulli Irelli E, Mazzeo A, Fallarino N, Caramia F, Tessari G, Morgillo E, Di Bonaventura C, Turchetta R, Palumbo G, Tullo MG, Mariani L, Nebbioso M, Mancini P, Guariglia C, Giona F.   +14 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

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

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

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