Hughes, Ery Catherine
Hughes, Ery Catherine
DIPARTIMENTO DI SCIENZE DELLA TERRA
Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score
2018 Moulin, P; Dufour, R; Averna, M; Arca, M; Cefalù, Ab; Noto, D; D'Erasmo, L; Di Costanzo, A; Marçais, C; Walther, Laa; Banach, M; Borén, J; Cramb, R; Gouni-Berthold, I; Hughes, E; Johnson, C; Pintó, X; Reiner, Ž; van Lennep, Jr; Soran, H; Stefanutti, C; Stroes, E; Bruckert, E
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study
2026 Van Spronsen, F.; Peters, H.; Margvelashvili, L.; Agladze, D.; Schwartz, I. V. D.; Gizewska, M.; Hamazaki, T.; Guilder, L.; Macdonald, A.; Vijay, S.; Inwood, A.; Minami, M.; Fjellbirkeland, O.; Lund, A.; Lah, M.; Thomas, J. A.; Longo, N.; Kiykim, E.; Ishige, M.; Burlina, A.; Belanger-Quintana, A.; Rutsch, F.; Opladen, T.; Mungan, H.; Ezgu, F.; Bratkovic, D.; Chakrapani, A.; Ito, T.; Guimas, A.; Zori, R.; Tchan, M.; Sacharow, S.; Oliveira, A.; Janeiro, P.; Guerra, I. -C.; Plana, J. C.; Yildiz, Y.; Canda, E.; Khan, A.; Vockley, J.; Breilyn, M. S.; Manti, F.; Larkin, A.; Hughes, C.; Liu, E.; Gao, L.; Ingalls, K.; Smith, N.; Muntau, A. C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score | 2018 | Moulin, P; Dufour, R; Averna, M; Arca, M; Cefalù, Ab; Noto, D; D'Erasmo, L; Di Costanzo, A; Marçais, C; Walther, Laa; Banach, M; Borén, J; Cramb, R; Gouni-Berthold, I; Hughes, E; Johnson, C; Pintó, X; Reiner, Ž; van Lennep, Jr; Soran, H; Stefanutti, C; Stroes, E; Bruckert, E | |
| Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study | 2026 | Van Spronsen, F.; Peters, H.; Margvelashvili, L.; Agladze, D.; Schwartz, I. V. D.; Gizewska, M.; Hamazaki, T.; Guilder, L.; Macdonald, A.; Vijay, S.; Inwood, A.; Minami, M.; Fjellbirkeland, O.; Lund, A.; Lah, M.; Thomas, J. A.; Longo, N.; Kiykim, E.; Ishige, M.; Burlina, A.; Belanger-Quintana, A.; Rutsch, F.; Opladen, T.; Mungan, H.; Ezgu, F.; Bratkovic, D.; Chakrapani, A.; Ito, T.; Guimas, A.; Zori, R.; Tchan, M.; Sacharow, S.; Oliveira, A.; Janeiro, P.; Guerra, I. -C.; Plana, J. C.; Yildiz, Y.; Canda, E.; Khan, A.; Vockley, J.; Breilyn, M. S.; Manti, F.; Larkin, A.; Hughes, C.; Liu, E.; Gao, L.; Ingalls, K.; Smith, N.; Muntau, A. C. |