Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex

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Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1075-1085

Oxford University Press

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cDNA Cloning and Chromosome Mapping of the Human Fe65 Gene: Interaction of the Conserved Cytoplasmic Domains of the Human β-amyloid Precursor Protein and Its Homologues with the Mouse Fe65 Protein

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Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1589-1598

Oxford University Press

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Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

By Kmoch Stanislav   Hartmannová Hana   Stibùrková Blanka   Krijt Jakub   Zikánová Marie   ebesta Ivan  

Human Molecular Genetics, Vol. 9, Iss. 10, 2000-06 ,pp. : 1501-1513

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A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse

By Rottier R.J.   Bonten E.   d A.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 313-321

Oxford University Press

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Enzyme therapy for lysosomal acid lipase deficiency in the mouse

By Schiavi S.   Levine M.   Du H.   Mishra J.   Heur M.   Grabowski G.A.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1639-1648

Oxford University Press

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