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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfaRaphael Schiffmann, Markus Ries, Derek Blankenship, et al.
American Journal of Hematology|May 14, 2016
Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher diseaseAri Zimran, Gloria Durán, Atul Mehta, 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.
Chest|March 9, 2018
Cavitary Lung Diseases: A Clinical-Radiologic Algorithmic ApproachKhalid Gafoor, Shalin Patel, Francis Girvin, et al.
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