Friedrich Trefz
AuthID: R-006-NE8
1
TITLE: European guidelines on diagnosis and treatment of phenylketonuria: First revision Full Text
AUTHORS: van Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C. ; Romani, C.; Trefz, F.; van Spronsen, F. J.;
PUBLISHED: 2025, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 145, ISSUE: 2
AUTHORS: van Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C. ; Romani, C.; Trefz, F.; van Spronsen, F. J.;
PUBLISHED: 2025, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 145, ISSUE: 2
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TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
3
TITLE: Is overweight an issue in phenylketonuria? Full Text
AUTHORS: Julio C Rocha ; Anita MacDonald; Friedrich Trefz;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: SUPPL.
AUTHORS: Julio C Rocha ; Anita MacDonald; Friedrich Trefz;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: SUPPL.
