Results 151 to 160 of about 14,130 (212)

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 GBA 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

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

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

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

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

The effect of ethanol on phospholipase A(2), lipase, beta-glucocerebrosidase and sphingomyelinase activities in the human stratum corneum [PDF]

, 2016
Brand, N, Kegui, T, Lane, ME, Rawlings, AV, Saud, A, Stapleton, PD   +5 more
core  

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

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