Results 111 to 120 of about 7,167 (179)

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

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

Chronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review. [PDF]

Case Rep Oncol
Sayınalp Arslan B, Çatan Erdekli FT, Sağlam Ayhan A, Aladağ Karakulak E, Malkan ÜY, Büyükaşık Y.   +5 more
europepmc   +1 more source

Sphingolipidoses: expanding the spectrum of α-synucleinopathies. [PDF]

J Neural Transm (Vienna)
Erskine D, Bronowska AK, Outeiro TF, Attems J.   +3 more
europepmc   +1 more source

Heterogeneous bone manifestations in a patient with Gaucher disease demonstrated by ¹⁸F-FDG positron emission tomography/computed tomography (PET/CT) and Al¹⁸F-FAPI-04 PET/CT: a case description. [PDF]

Quant Imaging Med Surg
Ma J, Huo L, Niu N.
europepmc   +1 more source

Amphotericin B promotes respiratory viral entry by enhancing late endosomal maturation and fusion via glucocerebrosidase-mediated ceramide remodeling. [PDF]

Nat Commun
He D, Zuo W, Xiang Z, Zhao J, Tong W, Li H, Fang Q, Li X, Zhang Y, Zheng Y, Zhuo X, Pu D, Huang Y, Yuan Y, Wang W, Lu Y, Luo M, Wang P, Wang Z, Cao B.   +19 more
europepmc   +1 more source

Sidransky Syndrome-<i>GBA1</i>-Related Parkinson's Disease and Its Targeted Therapies. [PDF]

Int J Mol Sci
Istaiti M, Yahalom G, Cohen M, Skrahina V, Skrahin A, Lukas J, Rolfs A, Zimran A.   +7 more
europepmc   +1 more source

Association of the rs823144 variant of the RAB29 gene with the activity of lysosomal hydrolases in blood cells and risk of Parkinson's disease. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Basharova KS, Bezrukova AI, Senkevich KA, Baydakova GV, Rybakov AV, Miliukhina IV, Timofeeva AA, Zakharova EY, Pchelina SN, Usenko TS.   +9 more
europepmc   +1 more source