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Page 1
Early feeding practices in infants with phenylketonuria across Europe.
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, Arslan N, Assoun M, Atik Altınok Y, Barrio-Carreras D, Belanger Quintana A, Bernabei SM, Bontemps C, Boyle F, Bruni G, Bueno-Delgado M, Caine G, Carvalho R, Chrobot A, Chyż K, Cochrane B, Correia C, Corthouts K, Daly A, De Leo S, Desloovere A, De Meyer A, De Theux A, Didycz B, Dijsselhof ME, Dokoupil K, Drabik J, Dunlop C, Eberle-Pelloth W, Eftring K, Ekengren J, Errekalde I, Evans S, Foucart A, Fokkema L, François L, French M, Forssell E, Gingell C, Gonçalves C, Gökmen Özel H, Grimsley A, Gugelmo G, Gyüre E, Heller C, Hensler R, Jardim I, Joost C, Jörg-Streller M, Jouault C, Jung A, Kanthe M, Koç N, Kok IL, Kozanoğlu T, Kumru B, Lang F, Lang K, Liegeois I, Liguori A, Lilje R, Ļubina O, Manta-Vogli P, Mayr D, Meneses C, Newby C, Meyer U, Mexia S, Nicol C, Och U, Olivas SM, Pedrón-Giner C, Pereira R, Plutowska-Hoffmann K, Purves J, Re Dionigi A, Reinson K, Robert M, Robertson L, Rocha JC, Rohde C, Rosenbaum-Fabian S, Rossi A, Ruiz M, Saligova J, Gutiérrez-Sánchez A, Schlune A, Schulpis K, Serrano-Nieto J, Skarpalezou A, Skeath R, Slabbert A, Straczek K, Giżewska M, Terry A, Thom R, Tooke A, Tuokkola J, van Dam… See abstract for full author list ➔ Pinto A, et al. Among authors: lilje r. Mol Genet Metab Rep. 2018 Aug 8;16:82-89. doi: 10.1016/j.ymgmr.2018.07.008. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 30101073 Free PMC article.
Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.
Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P, Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, Lowry S, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E, Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A, Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ, Wildgoose J, Zweers H. Adam S, et al. Among authors: lilje r. Mol Genet Metab. 2013 Dec;110(4):454-9. doi: 10.1016/j.ymgme.2013.10.003. Epub 2013 Oct 10. Mol Genet Metab. 2013. PMID: 24206934
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, Bihet G, Blom Malmberg K, Burlina A, Bushueva T, Caris A, Chan H, Clark A, Clark S, Cochrane B, Corthouts K, Dalmau J, Dassy M, De Meyer A, Didycz B, Diels M, Dokupil K, Dubois S, Eftring K, Ekengren J, Ellerton C, Evans S, Faria A, Fischer A, Ford S, Freisinger P, Giżewska M, Gokmen-Ozel H, Gribben J, Gunden F, Heddrich-Ellerbrok M, Heiber S, Heidenborg C, Jankowski C, Janssen-Regelink R, Jones I, Jonkers C, Joerg-Streller M, Kaalund-Hansen K, Kiss E, Lammardo AM, Lang K, Lier D, Lilje R, Lowry S, Luyten K, MacDonald A, Meyer U, Moor D, Pal A, Robert M, Robertson L, Rocha JC, Rohde C, Ross K, Saruhan S, Sjöqvist E, Skeath R, Stoelen L, Ter Horst NM, Terry A, Timmer C, Tuncer N, Vande Kerckhove K, van der Ploeg L, van Rijn M, van Spronsen FJ, van Teeffelen-Heithoff A, van Wegberg A, van Wyk K, Vasconcelos C, Vitoria I, Wildgoose J, Webster D, White FJ, Zweers H. Aguiar A, et al. Among authors: lilje r. Mol Genet Metab. 2015 May;115(1):17-22. doi: 10.1016/j.ymgme.2015.03.006. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25862610
Dietary practices in isovaleric acidemia: A European survey.
Pinto A, Daly A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei S, Bollhalder S, Cassiman D, Champion H, Chan H, Dalmau J, de Boer F, de Laet C, de Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Kaalund-Hansen K, Horst N, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok IL, Kowalik A, Laguerre C, Le Verge S, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Vande Kerckhove K, van Dam E, van den Hurk T, van der Ploeg L, van Driessche M, van Rijn M, van Teeffelen-Heithoff A, van Wegberg A, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White FJ, White L, Zweers H, MacDonald A. Pinto A, et al. Among authors: lilje r. Mol Genet Metab Rep. 2017 Feb 27;12:16-22. doi: 10.1016/j.ymgmr.2017.02.001. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28275552 Free PMC article.
Dietary practices in propionic acidemia: A European survey.
Daly A, Pinto A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Dalmau J, de Boer F, de Laet C, de Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Kaalund Hansen K, Ter Horst NM, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok IL, Kowalik A, Laguerre C, Le Verge S, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Vande Kerckhove K, van Dam E, van den Hurk T, van der Ploeg L, van Driessche M, van Rijn M, van Wegberg A, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White FJ, White L, Zweers H, MacDonald A. Daly A, et al. Among authors: lilje r. Mol Genet Metab Rep. 2017 Oct 3;13:83-89. doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 29021961 Free PMC article.
Weaning practices in phenylketonuria vary between health professionals in Europe.
Pinto A, Adams S, Ahring K, Allen H, Almeida MF, Garcia-Arenas D, Arslan N, Assoun M, Atik Altınok Y, Barrio-Carreras D, Belanger Quintana A, Bernabei SM, Bontemps C, Boyle F, Bruni G, Bueno-Delgado M, Caine G, Carvalho R, Chrobot A, Chyż K, Cochrane B, Correia C, Corthouts K, Daly A, De Leo S, Desloovere A, De Meyer A, De Theux A, Didycz B, Dijsselhof ME, Dokoupil K, Drabik J, Dunlop C, Eberle-Pelloth W, Eftring K, Ekengren J, Errekalde I, Evans S, Foucart A, Fokkema L, François L, French M, Forssell E, Gingell C, Gonçalves C, Gökmen Özel H, Grimsley A, Gugelmo G, Gyüre E, Heller C, Hensler R, Jardim I, Joost C, Jörg-Streller M, Jouault C, Jung A, Kanthe M, Koç N, Kok IL, Kozanoğlu T, Kumru B, Lang F, Lang K, Liegeois I, Liguori A, Lilje R, Ļubina O, Manta-Vogli P, Mayr D, Meneses C, Newby C, Meyer U, Mexia S, Nicol C, Och U, Olivas SM, Pedrón-Giner C, Pereira R, Plutowska-Hoffmann K, Purves J, Re Dionigi A, Reinson K, Robert M, Robertson L, Rocha JC, Rohde C, Rosenbaum-Fabian S, Rossi A, Ruiz M, Saligova J, Gutiérrez-Sánchez A, Schlune A, Schulpis K, Serrano-Nieto J, Skarpalezou A, Skeath R, Slabbert A, Straczek K, Giżewska M, Terry A, Thom R, Tooke A, Tuokkola J, van Dam… See abstract for full author list ➔ Pinto A, et al. Among authors: lilje r. Mol Genet Metab Rep. 2018 Nov 25;18:39-44. doi: 10.1016/j.ymgmr.2018.11.003. eCollection 2019 Mar. Mol Genet Metab Rep. 2018. PMID: 30705824 Free PMC article.
Dietary practices in methylmalonic acidaemia: a European survey.
Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Hansen KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, MacDonald A. Pinto A, et al. Among authors: lilje r. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
Breastfeeding in phenylketonuria.
Motzfeldt K, Lilje R, Nylander G. Motzfeldt K, et al. Among authors: lilje r. Acta Paediatr Suppl. 1999 Dec;88(432):25-7. doi: 10.1111/j.1651-2227.1999.tb01151.x. Acta Paediatr Suppl. 1999. PMID: 10626572 Clinical Trial.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: lilje r. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
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