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IOP conference series. Materials Science and Engineering, 2020-11, Vol.949 (1), p.12018
2020
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Applied physics. A, Materials science & processing, 2017, Vol.123 (1), p.1-10, Article 38
2017
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Journal of cultural heritage, 2006, Vol.7 (1), p.37-48
2006
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Journal of cultural heritage, 2023-07, Vol.62, p.376-386
2023
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Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.8-8, Article 8
2013
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Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.554-572
2023
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Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074
- 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.
- Garcia Cazorla, Angeles
2015
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Clinical chemistry and laboratory medicine, 2017-03, Vol.55 (3), p.403
2017
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Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
- Carrozzo, Rosalba
- Verrigni, Daniela
- Rasmussen, Magnhild
- de Coo, Rene
- Amartino, Hernan
- Bianchi, Marzia
- Buhas, Daniela
- Mesli, Samir
- Naess, Karin
- Born, Alfred Peter
- Woldseth, Berit
- Prontera, Paolo
- Batbayli, Mustafa
- Ravn, Kirstine
- Joensen, Fróði
- Cordelli, Duccio M.
- Santorelli, Filippo Maria
- Tulinius, Mar
- Darin, Niklas
- Duno, Morten
- Jouvencel, Philippe
- Burlina, Alberto
- Stangoni, Gabriela
- Bertini, Enrico
- Redonnet-Vernhet, Isabelle
- Wibrand, Flemming
- Dionisi-Vici, Carlo
- Uusimaa, Johanna
- Vieira, Paivi
- Osorio, Andrés Nascimento
- McFarland, Robert
- Taylor, Robert W.
- Holme, Elisabeth
- Ostergaard, Elsebet
2016
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Human mutation, 2008-02, Vol.29 (2), p.330-331
2008
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Human mutation, 2012-12, Vol.33 (12), p.1656-1664
- Smith, Holly
- Galmes, Romain
- Gogolina, Ekaterina
- Straatman-Iwanowska, Anna
- Reay, Kim
- Banushi, Blerida
- Bruce, Christopher K.
- Cullinane, Andrew R.
- Romero, Rene
- Chang, Richard
- Ackermann, Oanez
- Baumann, Clarisse
- Cangul, Hakan
- Cakmak Celik, Fatma
- Aygun, Canan
- Coward, Richard
- Dionisi-Vici, Carlo
- Sibbles, Barbara
- Inward, Carol
- Ae Kim, Chong
- Klumperman, Judith
- Knisely, A. S.
- Watson, Steven P.
- Gissen, Paul
2012
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Digestive and liver disease, 2021-05, Vol.53 (5), p.545-557
2021
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Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1162-1175
- Molema, Femke
- Gleich, Florian
- Burgard, Peter
- Ploeg, Ans T.
- Summar, Marshall L.
- Chapman, Kimberly A.
- Barić, Ivo
- Lund, Allan M.
- Kölker, Stefan
- Williams, Monique
- Hörster, F.
- Jelsig, A.M.
- Lonlay, P.
- Wijburg, F.A.
- Bosch, A.
- Freisinger, P.
- Posset, R.
- Augoustides‐Savvopoulou, P.
- Avram, P.
- Deleanu, C.
- Baumgartner, M.R.
- Häberle, J.
- Blasco‐Alonso, J.
- Burlina, A.B.
- Rubert, L.
- Cazorla, A. Garcia
- Saladelafont, E. Cortes i
- Dionisi‐Vici, C.
- Martinelli, D.
- Dobbelaere, D.
- Mention, K.
- Grünewald, S.
- Chakrapani, A.
- Hwu, Wuh‐Liang
- Chien, Yin‐Hsiu
- Lee, Ni‐Chung
- Karall, D.
- Scholl‐Bürgi, S.
- Lachmann, R.
- De Laet, C.
- Matsumoto, S.
- Meirleir, L.
- Mühlhausen, C.
- Schiff, M.
- Peña‐Quintana, L.
- Djordjevic, M.
- Sarajlija, A.
- Sykut‐Cegielska, J.
- Wisniewska, A.
- Leao‐Teles, E.
- Alves, S.
- Vara, R.
- Vives‐Pinera, I.
- Ortega, D.G.
- Morris, A.
- Zeman, J.
- Honzik, T.
- Chabrol, B.
- Arnaudo, F.
- Cano, A.
- Thompson, N.
- Eyskens, F.
- Lindner, M.
- Lüsebrink, N.
- Jalan, A.
- Sokal, E.
- Legros, V.
- Nassogne, M.C.
2019
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Molecular genetics and metabolism, 2019-04, Vol.126 (4), p.397-405
- Molema, Femke
- Gleich, Florian
- Burgard, Peter
- van der Ploeg, Ans T.
- Summar, Marshall L.
- Chapman, Kimberly A.
- Lund, Allan M.
- Rizopoulos, Dimitris
- Kölker, Stefan
- Williams, Monique
- Hörster, F.
- Jelsig, A.M.
- de Lonlay, P.
- Wijburg, F.A.
- Bosch, A.
- Freisinger, P.
- Posset, R.
- Augoustides-Savvopoulou, P.
- Avram, P.
- Deleanu, C.
- Baumgartner, M.R.
- Häberle, J.
- Blasco-Alonso, J.
- Burlina, A.B.
- Rubert, L.
- Cazorla, A. Garcia
- Saladelafont, E. Cortes I.
- Dionisi-Vici, C.
- Martinelli, D.
- Dobbelaere, D.
- Mention, K.
- Grünewald, S.
- Chakrapani, A.
- Hwu, Wuh-Liang
- Chien, Yin-Hsiu
- Lee, Ni-Chung
- Karall, D.
- Scholl-Bürgi, S.
- De Laet, C.
- Matsumoto, S.
- de Meirleir, L.
- Schiff, M.
- Peña-Quintana, L.
- Djordjevic, M.
- Sarajlija, A.
- Sykut-Cegielska, J.
- Wisniewska, A.
- Leao-Teles, E.
- Alves, S.
- Vara, R.
- Vives-Pinera, I.
- Gil-Ortega, D.
- Morris, A.
- Zeman, J.
- Honzik, T.
- Chabrol, B.
- Arnaudo, F.
- Cano, A.
- Thompson, N.
- Eyskens, F.
- Lindner, M.
- Lüsebrink, N.
- Jalan, A.
- Sokal, E.
- Legros, V.
- Nassogne, M.C.
- Barić, I.
2019
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Autophagy, 2018-01, Vol.14 (1), p.22-37
2018
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American journal of human genetics, 2004-02, Vol.74 (2), p.239-252
2004
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Cells (Basel, Switzerland), 2021-11, Vol.10 (12), p.3294
- Taranta, Anna
- Elmonem, Mohamed A
- Bellomo, Francesco
- De Leo, Ester
- Boenzi, Sara
- Janssen, Manoe J
- Jamalpoor, Amer
- Cairoli, Sara
- Pastore, Anna
- De Stefanis, Cristiano
- Colucci, Manuela
- Rega, Laura R
- Giovannoni, Isabella
- Francalanci, Paola
- van den Heuvel, Lambertus P
- Dionisi-Vici, Carlo
- Goffredo, Bianca M
- Masereeuw, Rosalinde
- Levtchenko, Elena
- Emma, Francesco
2021
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Neuroradiology, 2016-07, Vol.58 (7), p.697-703
2016
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Pediatric transplantation, 2012-11, Vol.16 (7), p.671-674
2012
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Journal of inherited metabolic disease, 2018-06, p.1-12
- Keller, R
- Chrastina, P
- Pavlíková, M
- Gouveia, S
- Ribes, A
- Kölker, S
- Blom, H J
- Baumgartner, M R
- Bártl, J
- Dionisi Vici, C
- Gleich, F
- Morris, A A
- Kožich, V
- Huemer, M
- Barić, I
- Ben-Omran, T
- Blasco-Alonso, J
- Bueno Delgado, M A
- Carducci, C
- Cassanello, M
- Cerone, R
- Couce, M L
- Crushell, E
- Delgado Pecellin, C
- Dulin, E
- Espada, M
- Ferino, G
- Fingerhut, R
- Garcia Jimenez, I
- Gonzalez Gallego, I
- González-Irazabal, Y
- Gramer, G
- Juan Fita, M J
- Karg, E
- Klein, J
- Konstantopoulou, V
- la Marca, G
- Leão Teles, E
- Leuzzi, V
- Lilliu, F
- Lopez, R M
- Lund, A M
- Mayne, P
- Meavilla, S
- Moat, S J
- Okun, J G
- Pasquini, E
- Pedron-Giner, C
- Racz, G Z
- Ruiz Gomez, M A
- Vilarinho, L
- Yahyaoui, R
- Zerjav Tansek, M
- Zetterström, R H
- Zeyda, M
2018
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American journal of human genetics, 1998-12, Vol.63 (6), p.1609-1621
- Tiranti, Valeria
- Hoertnagel, Konstanze
- Carrozzo, Rosalba
- Galimberti, Claudia
- Munaro, Monica
- Granatiero, Matteo
- Zelante, Leopoldo
- Gasparini, Paolo
- Marzella, Rosalia
- Rocchi, Mariano
- Bayona-Bafaluy, M. Pilar
- Enriquez, Josè-Antonio
- Uziel, Graziella
- Bertini, Enrico
- Dionisi-Vici, Carlo
- Franco, Brunella
- Meitinger, Thomas
- Zeviani, Massimo
1998
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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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American journal of human genetics, 1998-06, Vol.62 (6), p.1535-1539
1998
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Human mutation, 2003-04, Vol.21 (4), p.453-454
2003
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Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.201-205
2009
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