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Page 1
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: kok il. 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 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: kok il. 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: kok il. 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.
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: kok il. 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 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. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
International practices in the dietary management of fructose 1-6 biphosphatase deficiency.
Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A. Pinto A, et al. Among authors: kok il. Orphanet J Rare Dis. 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. Orphanet J Rare Dis. 2018. PMID: 29370874 Free PMC article.
[Hereditary fructose intolerance].
Rumping L, Waterham HR, Kok I, van Hasselt PM, Visser G. Rumping L, et al. Ned Tijdschr Geneeskd. 2014;158:A6889. Ned Tijdschr Geneeskd. 2014. PMID: 24594126 Dutch.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Visser G, Clarke K, Ferdinandusse S, de Haan FH, Houtkooper RH, IJlst L, Kok IL, Langeveld M, van der Pol WL, de Sain-van der Velden MGM, Sibeijn-Kuiper A, Takken T, Wanders RJA, van Weeghel M, Wijburg FA, van der Woude LH, Wüst RCI, Cox PJ, Jeneson JAL. Bleeker JC, et al. Among authors: kok il. J Inherit Metab Dis. 2020 Jul;43(4):787-799. doi: 10.1002/jimd.12217. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31955429 Free PMC article. Clinical Trial.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: kok il. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
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