Results 131 to 140 of about 2,604,703 (185)

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum. [PDF]

Cureus
Nikam R, Eghbal A, Sanger T, Garavatti E.   +3 more
europepmc   +1 more source

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis. [PDF]

Front Pediatr
Zhang L, Yu Q, Ge X, Xie X.
europepmc   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +8 more
europepmc   +1 more source

CRISPR screening in neurodegeneration and lysosomal biology: Uncovering disease mechanisms and genetic modifiers. [PDF]

Mol Genet Metab
Esmaeili H, Das S, Rytel K, Sidransky E, Chen Y.   +4 more
europepmc   +1 more source

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +1 more source

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]

Front Med (Lausanne)
Wang H, Xing W.
europepmc   +1 more source