Associated Papers
Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.
Placci M et al.
Advanced Drug Delivery Reviews, 2023
Lysosomal storage disorders: from biology to the clinic with reference to India.
Sheth J et al.
The Lancet Regional Health. Southeast Asia, 2023
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Vieira SRL et al.
Frontiers in Neurology, 2021
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Ysselstein D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Is Parkinson's disease a lysosomal disorder?
Klein AD et al.
Brain : a Journal of Neurology, 2018
Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features.
Limphaibool N et al.
Frontiers in Neurology, 2018
The role of epigenetics in lysosomal storage disorders: Uncharted territory.
Hassan S et al.
Molecular Genetics and Metabolism, 2017
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Mitochondrial Dysfunction in Lysosomal Storage Disorders.
de la Mata M et al.
Diseases (basel, Switzerland), 2016
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.
Cervera-Gaviria M et al.
Bmc Neurology, 2016
Disease models for the development of therapies for lysosomal storage diseases.
Xu M et al.
Annals of the New York Academy of Sciences, 2016
Pompe disease: Shared and unshared features of lysosomal storage disorders.
Lim JA et al.
Rare Diseases (austin, Tex.), 2015
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Pchelina SN et al.
Neuroscience Letters, 2014
From sheep to mice to cells: tools for the study of the sphingolipidoses.
Zigdon H et al.
Biochimica Et Biophysica Acta, 2014
Psychiatric and behavioral manifestations of lysosomal storage disorders.
Staretz-Chacham O et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010
New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy.
Beck M
Human Genetics, 2007
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
Salvioli R et al.
The Biochemical Journal, 2005