Results 161 to 170 of about 9,175 (221)

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

Liver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine. [PDF]

Front Med (Lausanne)
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]

J Cell Biochem
Corazolla EM, Schomakers BV, Trętowicz MM, Hermans J, van Weeghel M, Vaz FM, Pras-Raves ML, Vlugt KG, Beers-Stet FS, Goorden SMI, Jansen-Meijer J, Janssens GE, Hollak CEM, Houtkooper RH, van Kuilenburg ABP.   +14 more
europepmc   +1 more source

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study. [PDF]

Clin Case Rep
Shah BK, Koirala D, Mishra B, Sapkota R, Basnet 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

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

An injectable hydrogel containing <i>N</i>-acetylglycine for the treatment of Gaucher disease. [PDF]

RSC Adv
Pradhan L, Manna S, Yadav AJ, Bajrang B, Chakraborty D, Bhagat K, Tripathi S, Parmar AS, Padhi AK, Mukherjee S.   +9 more
europepmc   +1 more source

MAGa: Monoclonal Autoimmune Gammopathies. [PDF]

Cancers (Basel)
Torres S, Wheeler SE, Shurin MR.
europepmc   +1 more source

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

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