Otros recursos bibliográficos PKU

Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Genet Med. 2019 ;21:1851-1867

Ir

Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Mol Genet Metab. 2019;127:1-

Ir

Caletti MT, Bettocchi I, Baronio F, Brodosi L, Cataldi S, Petroni ML, Cassio A, Marchesini G. Maternal PKU:

Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.

Nutr Metab Cardiovasc Dis. 2020 ;30:977-983 

Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Hum Mutat. 2020 ;41:1329-1338

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