Journal of Inherited Metabolic Disease
Collection
Collection
- ISSN: 0141-8955
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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates Conference Paper
O.P. van Diggelen (Otto), L.F. Oemardin, N.A.M.E. van der Beek (Nadine), M.A. Kroos (Marian), H.K. Wind (Henk), Y.V. Voznyi, D. Burke, M. Jackson, B. Winchester and A.J.J. Reuser (Arnold)
April 2009 -
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop Article
Journal of Inherited Metabolic Disease, 32(4), 488-497.U. Spiekerkoeter (Ute), M. Lindner (Martin), R. Santer (Rene), M. Grotzke, M.R. Baumgartner (Matthias), H. Boehles (Hansjosef), A. Das, C. Haase, J.B. Hennermann (Julia), D. Karall (Daniela), et al. H. de Klerk, I. Knerr (Ina), H.G. Koch, B. Plecko (Barbara), W. Röschinger (Wulf), K.O. Schwab (Karl Otfried), D.G. Scheible (Dagmar), F.A. Wijburg (Frits), J. Zschocke (Johannes), E. Mayatepek (Ertan) and U. Wendel (Udo)
April 2009 -
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop Article
Journal of Inherited Metabolic Disease, 32(4), 498-505.U. Spiekerkoeter (Ute), M. Lindner (Martin), R. Santer (Rene), M. Grotzke, M.R. Baumgartner (Matthias), H. Boehles (Hansjosef), A. Das, C. Haase, J.B. Hennermann (Julia), D. Karall (Daniela), et al. H. de Klerk, I. Knerr (Ina), H.G. Koch, B. Plecko (Barbara), W. Röschinger (Wulf), K.O. Schwab (Karl Otfried), D.G. Scheible (Dagmar), F.A. Wijburg (Frits), J. Zschocke (Johannes), E. Mayatepek (Ertan) and U. Wendel (Udo)
May 2009 -
Prediction of outcome in isolated methylmalonic acidurias: Combined use of clinical and biochemical parameters Article
Journal of Inherited Metabolic Disease, 32(5), 630-639.F. Hörster (Friederike), S.F. Garbade (Sven), T. Zwickler, M. Lindner (Martin), S. Kölker (Stefan), H.I. Aydin (Halil Ibrahim), O.A. Bodamer (Olaf), A.B. Burlina (Alberto), A. Das, J.B.C. de Klerk (Johannes), et al. C. Dionisi-Vici (Carlo), S. Geb, G. Gökcay (Gülbin), N. Guffon (Nathalie), E.M. Maier, E. Morava (Eva), J.H. Walter (John), B. Schwahn (Bernd), F.A. Wijburg (Frits), S. Grünewald (Sonja) and M.R. Baumgartner (Matthias)
July 2009 -
Erratum: Prediction of outcome in isolated methylmalonic acidurias: Combined use of clinical and biochemical parameters (J Inherit Metab Dis (2009) (DOI 10.1007/s10545-009-1189-6)) Article
Journal of Inherited Metabolic Disease, 32(6), 762-763.F. Hörster (Friederike), S.F. Garbade (Sven), T. Zwickler, H.I. Aydin (Halil Ibrahim), O.A. Bodamer (Olaf), A.B. Burlina (Alberto), A. Das, J.B.C. de Klerk (Johannes), C. Dionisi-Vici (Carlo), S. Geb, et al. G. Gökcay (Gülbin), N. Guffon (Nathalie), E.M. Maier, E. Morava (Eva), J.H. Walter (John), B. Schwahn (Bernd), F.A. Wijburg (Frits), M. Lindner (Martin), S. Grünewald (Sonja), M.R. Baumgartner (Matthias) and S. Kölker (Stefan)
July 2009
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PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease Article
Journal of Inherited Metabolic Disease, 33(2), 133-139.M.L.C. Hagemans (Marloes), R.L. Stigter, C.I. van Capelle (Carine), N.A.M.E. van der Beek (Nadine), L.P.F. Winkel (Léon), L. van Vliet (Laura), W.C.J. Hop (Wim), A.J.J. Reuser (Arnold), A. Beishuizen (Auke) and A.T. van der Ploeg (Ans)
April 2010
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I Article
Journal of Inherited Metabolic Disease, 1-4.M.J. de Groot (Martijn), M. Cuppen (Marcel), M. Eling (Marc), F.W. Verheijen (Frans), E.H.H.M. Rings (Edmond), D.J. Reijngoud, M.M.C. de Vries (Maaike) and F.J. van Spronsen (Francjan)
September 2010
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Hearing loss in Pompe disease revisited: results from a study of 24 children Article
Journal of Inherited Metabolic Disease, 33(5), 597-602.C.I. van Capelle (Carine), A. Goedegebure (Andre), N.C. Homans (Nienke), L.J. Hoeve (Hans), A.J.J. Reuser (Arnold) and A.T. van der Ploeg (Ans)
October 2010