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Keywords: Lysosomal storage disorder
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Journal Articles
Dis Model Mech (2019) 12 (10): dmm038596.
Published: 16 October 2019
...Robert A. Brown; Antanina Voit; Manasa P. Srikanth; Julia A. Thayer; Tami J. Kingsbury; Marlene A. Jacobson; Marta M. Lipinski; Ricardo A. Feldman; Ola Awad ABSTRACT Bi-allelic GBA1 mutations cause Gaucher's disease (GD), the most common lysosomal storage disorder. Neuronopathic manifestations in...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2018) 11 (9): dmm034165.
Published: 15 August 2018
.... , Cousins , A. , Hartung , R. , et al. ( 2014 ). Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker . J. Clin. Invest.   124 , 1320 - 1328 . 10.1172/JCI72835 Vanier , M. T. ( 2010 ). Niemann-Pick disease type C . Orphanet J. Rare Dis.   5 , 16...
Includes: Supplementary data
Journal Articles
Dis Model Mech (2016) 9 (9): 1015–1028.
Published: 01 September 2016
...Heike Wolf; Markus Damme; Stijn Stroobants; Rudi D'Hooge; Hans Christian Beck; Irm Hermans-Borgmeyer; Renate Lüllmann-Rauch; Thomas Dierks; Torben Lübke ABSTRACT Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which...
Includes: Supplementary data