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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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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Creation of a mouse model for non-neurological (type B) Niemann–Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function

By Marathe Sudhir   Miranda SilviaR.P.  

Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1967-1976

Oxford University Press

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Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy

By Polito Vinicia Assunta   Abbondante Serena   Polishchuk Roman S.   Nusco Edoardo   Salvia Rosaria   Cosma Maria Pia  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4871-4885

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Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype

By Morris C.P.  

Human Molecular Genetics, Vol. 7, Iss. 8, 1998-08 ,pp. : 1215-1219

Oxford University Press

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