Results 131 to 140 of about 4,913 (183)

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

open access: yesMetabolites
Di Carlo G   +12 more
europepmc   +1 more source

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. [PDF]

open access: yesNeuropediatrics
Priglinger CS   +9 more
europepmc   +1 more source

Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort. [PDF]

open access: yesAJNR Am J Neuroradiol
Gaur P   +9 more
europepmc   +1 more source

Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease. [PDF]

open access: yesEye Brain
Gkalapis N   +8 more
europepmc   +1 more source

Whole-organism screening in a zebrafish model of CLN2 disease identifies pregnenolone as a modulator of lysosomal functions with anti-epileptic properties

open access: yes
Kiani LN   +13 more
europepmc   +1 more source

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