Results 151 to 160 of about 90,357 (220)

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

Cardioprotective effects of CoQ10 in pediatric patients with lysosomal storage disorders. [PDF]

Ital J Pediatr
Abuzaid Y, Suliman GAM, Toulba OARER, Elezz AAEBA, Badraldeen A, Dawoud H.   +5 more
europepmc   +1 more source

Role of the Lactide:Glycolide Ratio in PLGA Nanoparticle Stability and Release under Lysosomal Conditions for Enzyme Replacement Therapy of Lysosomal Storage Disorders. [PDF]

J Funct Biomater, 2023
Del Moral M, Loeck M, Muntimadugu E, Vives G, Pham V, Pfeifer P, Battaglia G, Muro S.   +7 more
europepmc   +1 more source

Treatment strategies for lysosomal storage disorders

Developmental Medicine & Child Neurology, 2018
M. Beck
semanticscholar   +1 more source

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 fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. [PDF]

EMBO J, 2022
Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A.   +10 more
europepmc   +1 more source

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China. [PDF]

Genome Med
Wang X, Sun Y, Guan XW, Wang YY, Hong DY, Zhang ZL, Li YH, Yang PY, Jiang T, Xu ZF.   +9 more
europepmc   +1 more source

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders. [PDF]

Indian J Med Res, 2023
Vanaja MC, Nurul Jain JM, Dalal A, Ranganath P.   +3 more
europepmc   +1 more source

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

, 2018
Joshua M. Shulman
openalex   +1 more source

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management. [PDF]

JIMD Rep
Terrell A, Sapp K, Graham B, McPheron M, Wetherill L.   +4 more
europepmc   +1 more source