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The lancet. Diabetes & endocrinology, 2017-09, Vol.5 (9), p.743-756
- van Spronsen, Francjan J, Prof
- van Wegberg, Annemiek MJ, MSc
- Ahring, Kirsten, MSc
- Bélanger-Quintana, Amaya, MD
- Blau, Nenad, Prof
- Bosch, Annet M, MD
- Burlina, Alberto, MD
- Campistol, Jaime, Prof
- Feillet, Francois, Prof
- Giżewska, Maria, MD
- Huijbregts, Stephan C, PhD
- Kearney, Shauna, MSc
- Leuzzi, Vincenzo, Prof
- Maillot, Francois, MD
- Muntau, Ania C, Prof
- Trefz, Fritz K, Prof
- van Rijn, Margreet, PhD
- Walter, John H, Prof
- MacDonald, Anita, Prof
2017
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Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2016
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Orphanet journal of rare diseases, 2011-05, Vol.6 (1), p.19-19
2011
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Cochrane database of systematic reviews, 2015-10, Vol.2015 (10), p.CD008840-CD008840
2015
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Archives of disease in childhood, 2017-11, Vol.102 (11), p.1019
- Ghosh, Arunabha
- Schlecht, Helene
- Heptinstall, Lesley E
- Bassett, John K
- Cartwright, Eleanor
- Bhaskar, Sanjeev S
- Urquhart, Jill
- Broomfield, Alexander
- Morris, Andrew Am
- Jameson, Elisabeth
- Schwahn, Bernd C
- Walter, John H
- Douzgou, Sofia
- Murphy, Helen
- Hendriksz, Chris
- Sharma, Reena
- Wilcox, Gisela
- Crushell, Ellen
- Monavari, Ardeshir A
- Martin, Richard
- Doolan, Anne
- Senniappan, Senthil
- Ramsden, Simon C
- Jones, Simon A
- Banka, Siddharth
2017
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Cochrane database of systematic reviews, 2013-08 (8), p.CD008840-CD008840
2013
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Molecular genetics and metabolism, 2011, Vol.104 Suppl, p.S52-S54
2011
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Cochrane database of systematic reviews, 2011-08 (8), p.CD008840
2011
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EMBO molecular medicine, 2021-12, Vol.13 (12), p.e14397-n/a
- Vidali, Silvia
- Gerlini, Raffaele
- Thompson, Kyle
- Urquhart, Jill E
- Meisterknecht, Jana
- Aguilar‐Pimentel, Juan Antonio
- Amarie, Oana V
- Becker, Lore
- Breen, Catherine
- Calzada‐Wack, Julia
- Chhabra, Nirav F
- Cho, Yi‐Li
- da Silva‐Buttkus, Patricia
- Feichtinger, René G
- Gampe, Kristine
- Garrett, Lillian
- Hoefig, Kai P
- Hölter, Sabine M
- Jameson, Elisabeth
- Klein‐Rodewald, Tanja
- Leuchtenberger, Stefanie
- Marschall, Susan
- Mayer‐Kuckuk, Philipp
- Miller, Gregor
- Oestereicher, Manuela A
- Pfannes, Kristina
- Rathkolb, Birgit
- Rozman, Jan
- Sanders, Charlotte
- Spielmann, Nadine
- Stoeger, Claudia
- Szibor, Marten
- Treise, Irina
- Walter, John H
- Wurst, Wolfgang
- Mayr, Johannes A
- Fuchs, Helmut
- Gärtner, Ulrich
- Wittig, Ilka
- Taylor, Robert W
- Newman, William G
- Prokisch, Holger
- Gailus‐Durner, Valerie
- Hrabě de Angelis, Martin
2021
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Pediatric research, 2006-06, Vol.59 (6), p.840-847
- KÖLKER, Stefan
- GARBADE, Sven F
- TRONCOSO, Monica
- WILLIAMS, Monique
- WALTER, John H
- CAMPISTOL, Jaume
- MARTI-HERRERO, Milagros
- CASWILL, Melissa
- BURLINA, Alberto B
- LAGLER, Florian
- MAIER, Esther M
- SCHWAHN, Bernd
- GREENBERG, Cheryl R
- TOKATLI, Aysegul
- DURSUN, Ali
- COSKUN, Turgay
- CHALMERS, Ronald A
- KOELLER, David M
- ZSCHOCKE, Johannes
- CHRISTENSEN, Ernst
- BURGARD, Peter
- HOFFMANN, Georg F
- LEONARD, James V
- SAUDUBRAY, Jean-Marie
- RIBES, Antonia
- KALKANOGLU, H. Serap
- LUND, Allan M
- MERINERO, Begona
- WAJNER, Moacir
2006
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European journal of pediatrics, 2003-12, Vol.162 Suppl 1, p.S21-S24
2003
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Paediatrics and child health, 2015-03, Vol.25 (3), p.145-148
2015
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Arteriosclerosis, thrombosis, and vascular biology, 2001-12, Vol.21 (12), p.2080
2001
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Journal of inherited metabolic disease, 2018-07, p.1-13
- Posset, Roland
- Garbade, Sven F
- Boy, Nikolas
- Burlina, Alberto B
- Dionisi-Vici, Carlo
- Dobbelaere, Dries
- Garcia-Cazorla, Angeles
- de Lonlay, Pascale
- Teles, Elisa Leão
- Vara, Roshni
- Ah Mew, Nicholas
- Batshaw, Mark L
- Baumgartner, Matthias R
- McCandless, Shawn
- Seminara, Jennifer
- Summar, Marshall
- Hoffmann, Georg F
- Kölker, Stefan
- Burgard, Peter
2018
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Journal of the American Podiatric Medical Association, 2004-07, Vol.94 (4), p.363
2004
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Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.741-742
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2018
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Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.743-744
- Posset, Roland
- Garcia-Cazorla, Angeles
- Valayannopoulos, Vassili
- Leão Teles, Elisa
- Dionisi-Vici, Carlo
- Brassier, Anaïs
- Burlina, Alberto B.
- Burgard, Peter
- Cortès-Saladelafont, Elisenda
- Dobbelaere, Dries
- Couce, Maria L.
- Sykut-Cegielska, Jolanta
- Häberle, Johannes
- Lund, Allan M.
- Chakrapani, Anupam
- Schiff, Manuel
- Walter, John H.
- Zeman, Jiri
- Vara, Roshni
- Kölker, Stefan
2018
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Fourth, Revised Edition, 2006
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Seventh edition, 2022
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Journal of the American Podiatric Medical Association, 2004-07, Vol.94 (4), p.382
2004
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Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1157-1158
- Kölker, Stefan
- Valayannopoulos, Vassili
- Burlina, Alberto B.
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A.
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R.
- Blasco-Alonso, Javier
- Boy, S. P. Nikolas
- Rasmussen, Marlene Bøgehus
- Burgard, Peter
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- Cortès i Saladelafont, Elisenda
- Couce, Maria L.
- de Meirleir, Linda
- Dobbelaere, Dries
- Furlan, Francesca
- Gleich, Florian
- González, Maria Julieta
- Gradowska, Wanda
- Grünewald, Stephanie
- Honzik, Tomas
- Hörster, Friederike
- Ioannou, Hariklea
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- Murphy, Elaine
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Pedrón, Consuelo C.
- Pintos-Morell, Guillem
- Pena-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Summar, Marshall L.
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H.
- Williams, Monique
- Lund, Allan M.
- Cazorla, Angeles Garcia
2015
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Human genetics, 2008-09, Vol.124 (2), p.187-193
2008
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Paediatrics and child health, 2011-02, Vol.21 (2), p.90-93
2011
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European journal of pediatrics, 2003-12, Vol.162 Suppl 1, p.S2-S4
2003
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Human mutation, 2004-02, Vol.23 (2), p.206-206
2004
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