Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
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A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) Article
Journal of Inherited Metabolic Disease, 16(6), 935-941.W. He (Wanyuan), Y.V. Voznyi, A.M. Boer, W.J. Kleijer (Wim) and O.P. van Diggelen (Otto)
November 1993
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Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria Article
Journal of Inherited Metabolic Disease, 16(6), 929-934.Ya.V. Vozyi (Ya), J.L.M. Keulemans (J. L M), W.J. Lleijer (W.), P. Aula (Pertti), G.R. Gray (G.) and O.P. van Diggelen (Otto)
November 1993
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Elevated plasma chitotriosidase activity in various lysosomal storage disorders Article
Journal of Inherited Metabolic Disease, 18(6), 717-722.Y. Guo (Yongli), W. He (Wanyuan), A.M. Boer, R.A. Wevers (Ron), A.M. de Bruijn (A.), J.E.M. Groener (Johanna), C.E.M. Hollak (Carla), J.M.F.G. Aerts (Johannes), H. Galjaard (Hans) and O.P. van Diggelen (Otto)
November 1995
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts Conference Paper
P.G. Barth (Peter), C. van den Bogert (C.), P.A. Bolhuis (P.), H.R. Scholte (Hans), A.H. van Gennip (A.), R.B.H. Schutgens (R. B H) and A.G. Ketel (Arnoldus)
May 1996
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Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency Conference Paper
H.D. Bakker (Henk), C. van den Bogert (C.), J.G. Drewes (J.), P.G. Barth (Peter), H.R. Scholte (Hans), R.J.A. Wanders (Ronald) and W. Ruitenbeek (Willem)
May 1996
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Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family Conference Paper
H.D. Bakker (Henk), C. van den Bogert (C.), H.R. Scholte (Hans), R. Zwart (Ronald), F.A. Wijburg (Frits) and J.N. Spelbrink (J.)
May 1996 -
A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA) Article
Journal of Inherited Metabolic Disease, 19(3), 278-285.E.A. Karpova (E.), Y.V. Voznyi, J.L.M. Keulemans (J. L M), A.T. Hoogeveen (Andre), B. Winchester, I.V. Tsvetkova (I.) and O.P. van Diggelen (Otto)
July 1996
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The fragile X syndrome Conference Paper
July 1997