Results 121 to 130 of about 90,357 (220)

Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells [PDF]

, 2011
Hongbin Xu, Kessiri Kongmanas, Suraj Kadunganattil, Charles E. Smith, Tony Rupar, Naoko Goto‐Inoue, Louis Hermo, Kym F. Faull, Nongnuj Tanphaichitr   +8 more
openalex   +1 more source

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder [PDF]

, 2020
Naresh Kumar Meena, Nina Raben
openalex   +1 more source

Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders [PDF]

, 1998
Chi T. Hua, John J. Hopwood, Sven R. Carlsson, R. J. Harris, Peter J. Meikle   +4 more
openalex   +1 more source

PRM69 - AN INCREASE OVER TIME IN PUBLISHED REAL-WORLD AND HEALTH ECONOMIC EVIDENCE IN CLINICAL JOURNALS ACROSS LYSOSOMAL STORAGE DISORDERS [PDF]

, 2018
Rosalie Gadiot, M. Friedman, TE Hartog, Yihong Huang, Liina Nevalaita, TP Rouwette, Stefaan Sansen, P Vincendon   +7 more
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Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon

Molecular Genetics and Metabolism Reports
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry.
Sarah Viall, Patrice Held
doaj   +1 more source

Heterocyclic sterol probes for live monitoring of sterol trafficking and lysosomal storage disorders [PDF]

, 2018
Jarmila Králová, Michal Jurášek, Lucie Krčová, Bohumil Dolenský, I. Νovotný, Michal Dušek, Zdeňka Rottnerová, Michal Kahle, Pavel Drašar, Petr Bartůněk, Vladimı́r Král   +10 more
openalex   +1 more source

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders [PDF]

, 2019
Diana Rojas Málaga, Ana Carolina Brusius‐Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva Pereira, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Úrsula da Silveira Matte, Roberto Giugliani   +8 more
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Elevated plasma chitotriosidase activity in various lysosomal storage disorders

, 1995
Yufeng Guo, He Wang, A. M. Boer, Ron A. Wevers, A M de Bruijn, J.E.M. Groener, Carla E. M. Hollak, Johannes M. F. G. Aerts, H. Galjaard, O. P. van Diggelen   +9 more
openalex   +2 more sources

Spontaneous Isomerization of Long-Lived Proteins Provides a Molecular Mechanism for the Lysosomal Failure Observed in Alzheimer's Disease. [PDF]

, 2019
Proteinaceous aggregation is a well-known observable in Alzheimer's disease (AD), but failure and storage of lysosomal bodies within neurons is equally ubiquitous and actually precedes bulk accumulation of extracellular amyloid plaque. In fact, AD shares
Augello, Catherine, Coburn, Emily, Ford, Byron D, Julian, Ryan R, Kang, Amrik S, Lambeth, Tyler R, Noll, Jessica, Riggs, Dylan L, Talbert, Lance E, Tang, Jin   +9 more
core   +1 more source

CNS Penetration of Intrathecal-Lumbar Idursulfase in the Monkey, Dog and Mouse: Implications for Neurological Outcomes of Lysosomal Storage Disorder

, 2012
Pericles Calias, Mikhail Papisov, Jing Pan, Nancy Savioli, Vasily Belov, Yan Huang, Jason Lotterhand, Mary Alessandrini, Nan Liu, Alan J. Fischman, Jan Powell, Michael W. Heartlein   +11 more
openalex   +2 more sources