Molecular and cellular characterization of novel α-mannosidosis mutations

By Kuokkanen Elina   Riise Stensland Hilde Monica Frostad   Smith Wesley   Kjeldsen Buvang Elisabeth   Van Nguyen Lam   Nilssen Øivind   Heikinheimo Pirkko  

Human Molecular Genetics, Vol. 20, Iss. 13, 2011-07 ,pp. : 2651-2661

Oxford University Press

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Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age

By Matthes Frank   Stroobants Stijn   Gerlach Debora   Wohlenberg Claudia   Wessig Carsten   Fogh Jens   Gieselmann Volkmar   Eckhardt Matthias   D'Hooge Rudi   Matzner Ulrich  

Human Molecular Genetics, Vol. 21, Iss. 11, 2012-06 ,pp. : 2599-2609

Oxford University Press

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Targeted disruption of the lysosomal α -mannosidase gene results in mice resembling a mild form of human α -mannosidosis

By Stinchi Sofia  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1365-1372

Oxford University Press

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Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

By Lawlor Michael W.   Armstrong Dustin   Viola Marissa G.   Widrick Jeffrey J.   Meng Hui   Grange Robert W.   Childers Martin K.   Hsu Cynthia P.   O'Callaghan Michael   Pierson Christopher R.   Buj-Bello Anna   Beggs Alan H.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1525-1538

Oxford University Press

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Enzyme replacement therapy in a murine model of Morquio A syndrome

By Tomatsu Shunji   Montao Adriana M.   Ohashi Amiko   Gutierrez Monica A.   Oikawa Hirotaka   Oguma Toshihiro   Dung Vu Chi   Nishioka Tatsuo   Orii Tadao   Sly William S.  

Human Molecular Genetics, Vol. 17, Iss. 6, 2008-03 ,pp. : 815-824

Oxford University Press

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