Showing results (71-80 of 107) with videos related to

Sort By:
Pageof 11
JIMD Reports|November 7, 2013
Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured CellsMakoto Kamei, Karissa Kasperski, Maria Fuller, et al.
Neuromuscular Disorders : NMD|May 19, 2020
Is it Pompe Disease? Australian diagnostic considerationsMichel Tchan, Robert Henderson, Andrew Kornberg, et al.
Clinical Chemistry and Laboratory Medicine|August 6, 2021
The BACH project protocol: an international multicentre total Bile Acid Comparison and Harmonisation project and sub-study of the TURRIFIC randomised trialCorey Markus, Suzette Coat, Hanns-Ulrich Marschall, et al.
The European Journal of Neuroscience|June 15, 2013
Peroxisome proliferator-activated receptor gamma-coactivator-1 alpha coordinates sphingolipid metabolism, lipid raft composition and myelin protein synthesisAlberto Camacho, Jeffrey K Huang, Ilse Delint-Ramirez, et al.
Molecular Genetics and Metabolism|July 5, 2023
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosisZackary M Herbst, Xinying Hong, Leslie Urdaneta, et al.
The Biochemical Journal|January 27, 2011
A lipidomic screen of palmitate-treated MIN6 β-cells links sphingolipid metabolites with endoplasmic reticulum (ER) stress and impaired protein traffickingEbru Boslem, Gemma MacIntosh, Amanda M Preston, et al.
Brain Research|July 11, 2006
Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIAAllison C Crawley, Briony L Gliddon, Dyane Auclair, et al.
Pediatrics|October 7, 2004
Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategyPeter J Meikle, Enzo Ranieri, Henrik Simonsen, et al.
Molecular Genetics and Metabolism|July 17, 2024
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic MucopolysaccharidosesJoseph Muenzer, Carole Ho, Heather Lau, et al.
The European Journal of Neuroscience|March 24, 2009
Examination of intravenous and intra-CSF protein delivery for treatment of neurological diseaseKim M Hemsley, Amanda J Luck, Allison C Crawley, et al.
Pageof 11