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Author/Creator Smeitink, Jan A. M.

1. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013)

Authors:
Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; van der Westhui...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
913
Record Type:
Journal Article
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2. High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders. Issue 3 (11th October 2014)

Authors:
Franik, Sebastian; Huidekoper, Hidde H.; Visser, Gepke; de Vries, Maaike; de Boer, Lonneke; Hermans‐Peters, Marion; Rodenburg, Richard; Verhaak, Chris; Vlieger, Arine M.; Smeitink, Jan A. M.; Janssen, Mirian C. H.; Wortmann, Saskia B.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
477
Record Type:
Journal Article
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3. International Paediatric Mitochondrial Disease Scale. Issue 5 (9th June 2016)

Authors:
Koene, Saskia; Hendriks, Jan C. M.; Dirks, Ilse; de Boer, Lonneke; de Vries, Maaike C.; Janssen, Mirian C. H.; Smuts, Izelle; Fung, Cheuk‐Wing; Wong, Virginia C. N.; de Coo, I. René F. M.; Vill, Katharina; Stendel, Claudia; Klopstock, Thomas; Falk, Marni J.; McCormick, Elizabeth M.; McFarland, Ro...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
705
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. Issue 3 (17th February 2015)

Authors:
Danhauser, Katharina; Smeitink, Jan A. M.; Freisinger, Peter; Sperl, Wolfgang; Sabir, Hemmen; Hadzik, Berit; Mayatepek, Ertan; Morava, Eva; Distelmaier, Felix
Journal:
Journal of inherited metabolic disease
Issue:
Volume 38:Issue 3(2015)
Page Start:
467
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗