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Number of items: 3.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 39(5):661-672.

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). Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics, 131(6):e1881-e1888.

This list was generated on Mon Mar 18 16:48:32 2019 CET.