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Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.848-873
2023
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Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.926-936
2022
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The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797
2016
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Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.27-27, Article 27
2011
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Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.795-803
2013
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Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.457-477
2018
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Rapid communications in mass spectrometry, 2017-06, Vol.31 (11), p.951-963
2017
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American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.654-660
2017
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Journal of inherited metabolic disease, 2016-07, Vol.39 (4), p.481-481
2016
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PloS one, 2017-07, Vol.12 (7), p.e0181700-e0181700
2017
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The Journal of nutritional biochemistry, 2015-09, Vol.26 (9), p.949-959
2015
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Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.693-700
2010
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Movement disorders clinical practice (Hoboken, N.J.), 2018-07, Vol.5 (4), p.436-438
2018
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The Lancet (British edition), 2015-09, Vol.386 (9997), p.1011-1012
2015
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Muscle & nerve, 2011-03, Vol.43 (3), p.444-446
2011
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Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.611-624
2016
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Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.581-589
- Gaillard, Segolene
- Roche, Laurent
- Lemoine, Sandrine
- Deschênes, Georges
- Morin, Denis
- Vianey-Saban, Christine
- Acquaviva-Bourdain, Cécile
- Ranchin, Bruno
- Bacchetta, Justine
- Kassai, Behrouz
- Nony, Patrice
- Bodénan, Eurielle
- Laudy, Valérie
- Rouges, Cécile
- Zarrabian, Setareh
- Subtil, Fabien
- Mercier, Catherine
- Cochat, Pierre
- Bertholet-Thomas, Aurélia
2021
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Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.59-59, Article 59
2020
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Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100583-100583, Article 100583
2020
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Rapid communications in mass spectrometry, 2005-01, Vol.19 (12), p.1587-1602
2005
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Human mutation, 2017-05, Vol.38 (5), p.524-531
- Mendes, Marisa I
- Smith, Desirée EC
- Pop, Ana
- Lennertz, Pascal
- Fernandez Ojeda, Matilde R
- Kanhai, Warsha A
- Dooren, Silvy JM
- Anikster, Yair
- Barić, Ivo
- Boelen, Caroline
- Campistol, Jaime
- Boer, Lonneke
- Kariminejad, Ariana
- Kayserili, Hulya
- Roubertie, Agathe
- Verbruggen, Krijn T
- Vianey‐Saban, Christine
- Williams, Monique
- Salomons, Gajja S
2017
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American journal of human genetics, 2013-01, Vol.92 (1), p.131-136
- Flanagan, Sarah E.
- Xie, Weijia
- Caswell, Richard
- Damhuis, Annet
- Vianey-Saban, Christine
- Akcay, Teoman
- Darendeliler, Feyza
- Bas, Firdevs
- Guven, Ayla
- Siklar, Zeynep
- Ocal, Gonul
- Berberoglu, Merih
- Murphy, Nuala
- O’Sullivan, Maureen
- Green, Andrew
- Clayton, Peter E.
- Banerjee, Indraneel
- Clayton, Peter T.
- Hussain, Khalid
- Weedon, Michael N.
- Ellard, Sian
2013
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Rapid communications in mass spectrometry, 2003-01, Vol.17 (12), p.1297-1311
2003
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Diagnostic pathology, 2011-04, Vol.6 (1), p.39-39, Article 39
2011
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Zeitschrift / Serie
- Journal Of Inherited Metabolic Disease
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