Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
2023 · npj Genomic Medicine · 49 citations
https://doi.org/10.1038/s41525-023-00365-w
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Andrés D. Klein
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Andrés D. Klein is an academic researcher from Universidad del Desarrollo. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Cellular transport and secretion & Calcium signaling and nucleotide metabolism. The author has an h-index of 22, co-authored 57 publications.
ORCID: 0000-0002-9951-2174Papers by this author
worksc-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder
2020 · iScience · 43 citations
https://doi.org/10.1016/j.isci.2020.101691
Rare diseases in Chile: challenges and recommendations in universal health coverage context
2019 · Orphanet Journal of Rare Diseases · 38 citations
https://doi.org/10.1186/s13023-019-1261-8
Cholinergic Abnormalities, Endosomal Alterations and Up-Regulation of Nerve Growth Factor Signaling in Niemann-Pick Type C Disease
2012 · Molecular Neurodegeneration · 29 citations
https://doi.org/10.1186/1750-1326-7-11
Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria
2023 · Nature Communications · 20 citations
https://doi.org/10.1038/s41467-023-42107-7
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity
2021 · Biochemistry and Biophysics Reports · 5 citations
https://doi.org/10.1016/j.bbrep.2021.101105
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