Associated Papers
Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.
Montanari C et al.
Children (basel, Switzerland), 2024
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Favret JM et al.
Frontiers in Molecular Biosciences, 2020
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.
Duarte AJ et al.
International Journal of Molecular Sciences, 2018
Disease models for the development of therapies for lysosomal storage diseases.
Xu M et al.
Annals of the New York Academy of Sciences, 2016
From sheep to mice to cells: tools for the study of the sphingolipidoses.
Zigdon H et al.
Biochimica Et Biophysica Acta, 2014
Pharmacological chaperone therapy for Gaucher disease: a patent review.
Benito JM et al.
Expert Opinion on Therapeutic Patents, 2011
Expanding newborn screening for lysosomal disorders: opportunities and challenges.
Waggoner DJ et al.
Developmental Disabilities Research Reviews, 2011
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Sawkar AR et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Park JK et al.
Pediatric Research, 2003
Select a paper to view details