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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A Model of mRNA Splicing in Adult Lysosomal Storage Disease (Glycogenosis Type II)

By Raben Nina   Nichols Ralph C.   Martiniuk Frank   Plotz Paul H.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 995-1000

Oxford University Press

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Human acid α -glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II

By Bijvoet Agnes G. A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2145-2153

Oxford University Press

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Expression of Lysosomal Acid Lipase Mutants Detected in Three Patients with Cholesteryl Ester Storage Disease

By Pagani Franco   Garcia Rodolfo   Pariyarath Rajalakshmi   Stuani Cristiana   Gridelli Bruno   Paone Giovanni   BaraMe Francisco E.  

Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1611-1617

Oxford University Press

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A block of autophagy in lysosomal storage disorders

By Settembre Carmine   Fraldi Alessandro   Jahreiss Luca   Spampanato Carmine   Venturi Consuelo   Medina Diego   de Pablo Raquel   Tacchetti Carlo   Rubinsztein David C.   Ballabio Andrea  

Human Molecular Genetics, Vol. 17, Iss. 1, 2008-01 ,pp. : 119-129

Oxford University Press

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