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Clinical genetics, 2010-03, Vol.77 (3), p.249-257
2010
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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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Journal of inherited metabolic disease, 2018-09, p.1-19
- Huemer, Martina
- Diodato, Daria
- Martinelli, Diego
- Olivieri, Giorgia
- Blom, Henk
- Gleich, Florian
- Kölker, Stefan
- Kožich, Viktor
- Morris, Andrew A
- Seifert, Burkhardt
- Froese, D Sean
- Baumgartner, Matthias R
- Dionisi-Vici, Carlo
- Alcalde Martin, C
- Baethmann, M
- Ballhausen, D
- Blasco-Alonso, J
- Boy, N
- Bueno, M
- Burgos Peláez, R
- Cerone, R
- Chabrol, B
- Chapman, K A
- Couce, M L
- Crushell, E
- Dalmau Serra, J
- Diogo, L
- Ficicioglu, C
- García Jimenez, M C
- García Silva, M T
- Gaspar, A M
- Gautschi, M
- González-Lamuño, D
- Gouveia, S
- Grünewald, S
- Hendriksz, C
- Janssen, M C H
- Jesina, P
- Koch, J
- Konstantopoulou, V
- Lavigne, C
- Lund, A M
- Martins, E G
- Meavilla Olivas, S
- Mention, K
- Mochel, F
- Mundy, H
- Murphy, E
- Paquay, S
- Pedrón-Giner, C
- Ruiz Gómez, M A
- Santra, S
- Schiff, M
- Schwartz, I V
- Scholl-Bürgi, S
- Servais, A
- Skouma, A
- Tran, C
- Vives Piñera, I
- Walter, J
- Weisfeld-Adams, J
2018
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Thrombosis research, 2007-01, Vol.120 (4), p.607-613
2007
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Cephalalgia, 2006-06, Vol.26 (6), p.731-737
2006
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Journal of inherited metabolic disease, 2001-07, Vol.24 (4), p.448-464
2001
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American journal of neuroradiology, 2001-03, Vol.22 (3), p.554-563
2001
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Journal of Chromatography A, 1998-12, Vol.828 (1), p.401-405
1998
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Molecular genetics and metabolism, 2004-02, Vol.81 (2), p.137-139
2004
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Pediatrics (Evanston), 2013-06, Vol.131 (6), p.e1881
- Keil, Stefanie
- Anjema, Karen
- van Spronsen, Francjan J
- Lambruschini, Nilo
- Burlina, Alberto
- Bélanger-Quintana, Amaya
- Couce, Maria L
- Feillet, Francois
- Cerone, Roberto
- Lotz-Havla, Amelie S
- Muntau, Ania C
- Bosch, Annet M
- Meli, Concetta A P
- Billette de Villemeur, Thierry
- Kern, Ilse
- Riva, Enrica
- Giovannini, Marcello
- Damaj, Lena
- Leuzzi, Vincenzo
- Blau, Nenad
2013
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Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.128-139
- Keller, Rebecca
- Chrastina, Petr
- Pavlíková, Markéta
- Gouveia, Sofía
- Ribes, Antonia
- Kölker, Stefan
- Blom, Henk J.
- Baumgartner, Matthias R.
- Bártl, Josef
- Dionisi‐Vici, Carlo
- Gleich, Florian
- Morris, Andrew A.
- Kožich, Viktor
- Huemer, Martina
- Barić, Ivo
- Ben‐Omran, Tawfeq
- Blasco‐Alonso, Javier
- Bueno Delgado, Maria A.
- Carducci, Claudia
- Cassanello, Michela
- Cerone, Roberto
- Couce, Maria Luz
- Crushell, Ellen
- Delgado Pecellin, Carmen
- Dulin, Elena
- Espada, Mercedes
- Ferino, Giulio
- Fingerhut, Ralph
- Garcia Jimenez, Immaculada
- Gonzalez Gallego, Immaculada
- González‐Irazabal, Yolanda
- Gramer, Gwendolyn
- Juan Fita, Maria Jesus
- Karg, Eszter
- Klein, Jeanette
- Konstantopoulou, Vassiliki
- la Marca, Giancarlo
- Leão Teles, Elisa
- Leuzzi, Vincenzo
- Lilliu, Franco
- Lopez, Rosa Maria
- Lund, Allan M.
- Mayne, Philip
- Meavilla, Silvia
- Moat, Stuart J.
- Okun, Jürgen G.
- Pasquini, Elisabeta
- Pedron‐Giner, Consuélo Carmen
- Racz, Gabor Zoltan
- Ruiz Gomez, Maria Angeles
- Vilarinho, Laura
- Yahyaoui, Raquel
- Zerjav Tansek, Moja
- Zetterström, Rolf H.
- Zeyda, Maximilian
2019
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Nutrition, metabolism, and cardiovascular diseases, 2003-08, Vol.13 (4), p.202-210
2003
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Southeast Asian journal of tropical medicine and public health, 1999, Vol.30 Suppl 2, p.51-51
1999
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Journal of inherited metabolic disease, 2004-01, Vol.27 (1), p.101-102
2004
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Neuropediatrics, 2001-02, Vol.32 (1), p.14
2001
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Diabetes care, 2001-05, Vol.24 (5), p.969-970
2001
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Journal of endocrinological investigation, 2013-03, Vol.36 (3), p.195-203
2013
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Journal of inherited metabolic disease, 2002-06, Vol.25 (4), p.317-318
2002
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The American journal of clinical nutrition, 2001-08, Vol.74 (2), p.271-271
2001
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Molecular genetics and metabolism, 2010-02, Vol.99 (2), p.109-115
2010
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International journal of neonatal screening, 2018-03, Vol.4 (1), p.8-8
2018
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Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.247-250
1999
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Genetics in medicine, 2010-07, Vol.12 (7), p.431-439
- Marini, Monica
- Bocciardi, Renata
- Gimelli, Stefania
- Di Duca, Marco
- Divizia, Maria T.
- Baban, Anwar
- Gaspar, Harald
- Mammi, Isabella
- Garavelli, Livia
- Cerone, Roberto
- Emma, Francesco
- Bedeschi, Maria F.
- Tenconi, Romano
- Sensi, Alberto
- Salmaggi, Andrea
- Bengala, Mario
- Mari, Francesca
- Colussi, Gianluca
- Szczaluba, Krzysztof
- Antonarakis, Stylianos E.
- Seri, Marco
- Lerone, Margherita
- Ravazzolo, Roberto
2010
Volltextzugriff (PDF)
Acta Paediatrica, 1997-09, Vol.86 (9), p.1013-1015
1997
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American journal of human genetics, 1992-12, Vol.51 (6), p.1355-1365
- EISENSMITH, R. C
- OKANO, Y
- HAGENFELDT, L
- REY, F
- MUNNICH, A
- LYONNET, S
- COCKBURN, F
- CONNOR, J. M
- PEMBREY, M. E
- SMITH, I
- GITZELMAN, R
- STEINMANN, B
- DASOVICH, M
- APOLD, J
- EIKEN, H. G
- GIOVANNINI, M
- RIVA, E
- LONGHI, R
- ROMANO, C
- CERONE, R
- NAUGHTEN, E. R
- MULLINS, C
- CAHALANE, S
- WANG, T
- OZALP, I
- FEKETE, G
- SCHULER, D
- BERENCSI, G. Y
- GÜTTLER, F
- NASZ, I
- BRDICKA, R
- KAMARYT, J
- PIJACKOVA, A
- CABALSKA, B
- BOSZKOWA, K
- SCHWARTZ, E
- KALININ, V. N
- JIN, L
- CHAKRABORTY, R
- LOU, H
- WOO, S. L. C
- GULDBERG, P
- LICHTER-KONECKI, U
- KONECKI, D. S
- SVENSSON, E
1992
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