Results 131 to 140 of about 16,645,960 (212)

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
europepmc   +1 more source

Gaucher disease: the hematologist's perspective of a multisystemic disorder. [PDF]

Ann Hematol
Costa A, Mulas O, Caocci G.
europepmc   +1 more source

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [PDF]

Orphanet J Rare Dis
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

Computational evaluation of EPA-PC binding to GCase in neuronopathic Gaucher disease. [PDF]

Curr Res Struct Biol
Nagori R, Rai PK, Solanki M, Sabharwal U, Patel P.   +4 more
europepmc   +1 more source

Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing. [PDF]

Int J Mol Sci
Lipiński P, Węgrzyn G.
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

A dimer peptide ligand of vascular endothelial growth factor slows the progression of human gastric tumors in mouse xenografts. [PDF]

PLoS One
Ye X, Hu H, He Y, Ye F, Jin J, Olivier E, Gaucher JF, Wang L, Broussy S.   +8 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

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic <i>GBA1</i> variants: a case report. [PDF]

Front Neurosci
Sun Y, Ni R, Yu Y.
europepmc   +1 more source

persistent pain and fatigue drive reduced quality of life in treated Gaucher disease type 1: a cross-sectional analysis. [PDF]

Orphanet J Rare Dis
Mangum SL, Hernandez SHA, Dickson EL, Packman W, Tigges B.   +4 more
europepmc   +1 more source