Results 141 to 150 of about 58,222 (243)

Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder

Proceedings of the National Academy of Sciences of the United States of America, 2012
Chiara Di Malta, J. Fryer, C. Settembre, A. Ballabio   +3 more
semanticscholar   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

Mutation identification of Fabry disease in families with other lysosomal storage disorders [PDF]

, 2012
Anna Zampetti, Luca Fania, Daniela Antuzzi, Federica Giurdanella, Maria Gnarra, Francesca Bertola, Susanna Lualdi, Mirella Filocamo, Amelia Morrone, Claudio Feliciani   +9 more
openalex   +1 more source

Drug induced phospholipidosis: an acquired lysosomal storage disorder.

Biochimica et Biophysica Acta, 2013
J. Shayman, A. Abe
semanticscholar   +1 more source

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models. [PDF]

Sci Transl Med
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD.   +21 more
europepmc   +1 more source

Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders

, 2011
Janet Hsu, Laura Northrup, Tridib Kumar Bhowmick, Silvia Muro   +3 more
openalex   +2 more sources

Ocular Features of Treatable Lysosomal Storage Disorders—Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease [PDF]

, 2012
Ines Lanzl, Bart P. Leroy
openalex   +1 more source

Lysosomal storage disorder gene variants in multiple system atrophy. [PDF]

Brain, 2018
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H.   +7 more
europepmc   +1 more source

Exogenous estrogen partially rescues progesterone deficiency and autophagosome enlargement in Mcoln1 ^-/- mouse model with lysosomal storage disorder. [PDF]

Reprod Dev Med
Wang Z, Li Y, Andersen CL, El Zowalaty AE, Hancock JM, Martin TE, Howerth EW, Viswanathan S, Byun H, Ye X.   +9 more
europepmc   +1 more source

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [PDF]

FEBS Lett, 2018
Pande S, Bizilj W, Guo HC.
europepmc   +1 more source