par Mayorandan, Sebene;Meyer, Uta;Das, Anibh Martin;Gokcay, Gülden;Segarra, Nuria Garcia;De Baulny, Hélène Ogier;Van Spronsen, Francjan;Zeman, Jiří;De Laet, Corinne 
;Spiekerkoetter, Ute;Thimm, Eva;Maiorana, Arianna;Dionisi-Vici, Carlo;Moeslinger, Dorothea;Brunner-Krainz, Michaela;Lotz-Havla, Amelie Sophia;Cocho De Juan, José Angel;Couce Pico, Maria Luz;Santer, René;Scholl-Bürgi, Sabine;Mandel, Hanna;Bliksrud, Yngve Thomas;Freisinger, Peter;Aldamiz-Echevarria, Luis Jose;Hochuli, Michel;Gautschi, Matthias;Endig, Jessica;Vogel, Arndt;Jordan, Jens;McKiernan, Patrick;Ernst, Stefanie;Morlot, Susanne;Sander, Johannes
Référence Orphanet journal of rare diseases, 9, 1, 107
Publication Publié, 2014-08
;Spiekerkoetter, Ute;Thimm, Eva;Maiorana, Arianna;Dionisi-Vici, Carlo;Moeslinger, Dorothea;Brunner-Krainz, Michaela;Lotz-Havla, Amelie Sophia;Cocho De Juan, José Angel;Couce Pico, Maria Luz;Santer, René;Scholl-Bürgi, Sabine;Mandel, Hanna;Bliksrud, Yngve Thomas;Freisinger, Peter;Aldamiz-Echevarria, Luis Jose;Hochuli, Michel;Gautschi, Matthias;Endig, Jessica;Vogel, Arndt;Jordan, Jens;McKiernan, Patrick;Ernst, Stefanie;Morlot, Susanne;Sander, JohannesRéférence Orphanet journal of rare diseases, 9, 1, 107
Publication Publié, 2014-08
Article révisé par les pairs
| Titre: |
|
| Auteur: | Mayorandan, Sebene; Meyer, Uta; Das, Anibh Martin; Gokcay, Gülden; Segarra, Nuria Garcia; De Baulny, Hélène Ogier; Van Spronsen, Francjan; Zeman, Jiří; De Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho De Juan, José Angel; Couce Pico, Maria Luz; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Vogel, Arndt; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Sander, Johannes |
| Informations sur la publication: | Orphanet journal of rare diseases, 9, 1, 107 |
| Statut de publication: | Publié, 2014-08 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Pharmacologie | |
| Génétique clinique | |
| Mots-clés: | Diet |
| Hepatocellular carcinoma | |
| Liver transplantation | |
| Newborn screening | |
| NTBC | |
| Psychomotor impairment | |
| Succinylacetone | |
| Therapeutic monitoring | |
| Tyrosine | |
| Note générale: | SCOPUS: ar.j |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1750-1172 |
| info:doi/10.1186/s13023-014-0107-7 | |
| info:scp/84906550007 |
