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Start Over "Dokoupil, K." Journal molecular genetics and metabolism reports
7 results on '"Dokoupil, K."'

1. Weaning practices in phenylketonuria vary between health professionals in Europe

Author

Pinto, A., primary, Adams, S., additional, Ahring, K., additional, Allen, H., additional, Almeida, M.F., additional, Garcia-Arenas, D., additional, Arslan, N., additional, Assoun, M., additional, Atik Altınok, Y., additional, Barrio-Carreras, D., additional, Belanger Quintana, A., additional, Bernabei, S.M., additional, Bontemps, C., additional, Boyle, F., additional, Bruni, G., additional, Bueno-Delgado, M., additional, Caine, G., additional, Carvalho, R., additional, Chrobot, A., additional, Chyż, K., additional, Cochrane, B., additional, Correia, Carla, additional, Corthouts, K., additional, Daly, A., additional, De Leo, S., additional, Desloovere, A., additional, De Meyer, A., additional, De Theux, A., additional, Didycz, B., additional, Dijsselhof, M.E., additional, Dokoupil, K., additional, Drabik, J., additional, Dunlop, C., additional, Eberle-Pelloth, W., additional, Eftring, K., additional, Ekengren, J., additional, Errekalde, I., additional, Evans, S., additional, Foucart, A., additional, Fokkema, L., additional, François, L., additional, French, M., additional, Forssell, E., additional, Gingell, C., additional, Gonçalves, C., additional, Gökmen Özel, H., additional, Grimsley, A., additional, Gugelmo, G., additional, Gyüre, E., additional, Heller, C., additional, Hensler, R., additional, Jardim, I., additional, Joost, C., additional, Jörg-Streller, M., additional, Jouault, C., additional, Jung, A., additional, Kanthe, M., additional, Koç, N., additional, Kok, I.L., additional, Kozanoğlu, T., additional, Kumru, B., additional, Lang, F., additional, Lang, K., additional, Liegeois, I., additional, Liguori, A., additional, Lilje, R., additional, Ļubina, O., additional, Manta-Vogli, P., additional, Mayr, D., additional, Meneses, C., additional, Newby, C., additional, Meyer, U., additional, Mexia, S., additional, Nicol, C., additional, Och, U., additional, Olivas, S.M., additional, Pedrón-Giner, C., additional, Pereira, R., additional, Plutowska-Hoffmann, K., additional, Purves, J., additional, Re Dionigi, A., additional, Reinson, K., additional, Robert, M., additional, Robertson, L., additional, Rocha, J.C., additional, Rohde, C., additional, Rosenbaum-Fabian, S., additional, Rossi, A., additional, Ruiz, M., additional, Saligova, J., additional, Gutiérrez-Sánchez, A., additional, Schlune, A., additional, Schulpis, K., additional, Serrano-Nieto, J., additional, Skarpalezou, A., additional, Skeath, R., additional, Slabbert, A., additional, Straczek, K., additional, Giżewska, M., additional, Terry, A., additional, Thom, R., additional, Tooke, A., additional, Tuokkola, J., additional, van Dam, E., additional, van den Hurk, T.A.M., additional, van der Ploeg, E.M.C., additional, Vande Kerckhove, K., additional, Van Driessche, M., additional, van Wegberg, A.M.J., additional, van Wyk, K., additional, Vasconcelos, C., additional, Velez García, V., additional, Wildgoose, J., additional, Winkler, T., additional, Żółkowska, J., additional, Zuvadelli, J., additional, and MacDonald, A., additional

Published
2019
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2. Early feeding practices in infants with phenylketonuria across Europe

Author

Pinto, A., primary, Adams, S., additional, Ahring, K., additional, Allen, H., additional, Almeida, M.F., additional, Garcia-Arenas, D., additional, Arslan, N., additional, Assoun, M., additional, Atik Altınok, Y., additional, Barrio-Carreras, D., additional, Belanger Quintana, A., additional, Bernabei, S.M., additional, Bontemps, C., additional, Boyle, F., additional, Bruni, G., additional, Bueno-Delgado, M., additional, Caine, G., additional, Carvalho, R., additional, Chrobot, A., additional, Chyż, K., additional, Cochrane, B., additional, Correia, C., additional, Corthouts, K., additional, Daly, A., additional, De Leo, S., additional, Desloovere, A., additional, De Meyer, A., additional, De Theux, A., additional, Didycz, B., additional, Dijsselhof, M.E., additional, Dokoupil, K., additional, Drabik, J., additional, Dunlop, C., additional, Eberle-Pelloth, W., additional, Eftring, K., additional, Ekengren, J., additional, Errekalde, I., additional, Evans, S., additional, Foucart, A., additional, Fokkema, L., additional, François, L., additional, French, M., additional, Forssell, E., additional, Gingell, C., additional, Gonçalves, C., additional, Gökmen Özel, H., additional, Grimsley, A., additional, Gugelmo, G., additional, Gyüre, E., additional, Heller, C., additional, Hensler, R., additional, Jardim, I., additional, Joost, C., additional, Jörg-Streller, M., additional, Jouault, C., additional, Jung, A., additional, Kanthe, M., additional, Koç, N., additional, Kok, I.L., additional, Kozanoğlu, T., additional, Kumru, B., additional, Lang, F., additional, Lang, K., additional, Liegeois, I., additional, Liguori, A., additional, Lilje, R., additional, Ļubina, O., additional, Manta-Vogli, P., additional, Mayr, D., additional, Meneses, C., additional, Newby, C., additional, Meyer, U., additional, Mexia, S., additional, Nicol, C., additional, Och, U., additional, Olivas, S.M., additional, Pedrón-Giner, C., additional, Pereira, R., additional, Plutowska-Hoffmann, K., additional, Purves, J., additional, Re Dionigi, A., additional, Reinson, K., additional, Robert, M., additional, Robertson, L., additional, Rocha, J.C., additional, Rohde, C., additional, Rosenbaum-Fabian, S., additional, Rossi, A., additional, Ruiz, M., additional, Saligova, J., additional, Gutiérrez-Sánchez, A., additional, Schlune, A., additional, Schulpis, K., additional, Serrano-Nieto, J., additional, Skarpalezou, A., additional, Skeath, R., additional, Slabbert, A., additional, Straczek, K., additional, Giżewska, M., additional, Terry, A., additional, Thom, R., additional, Tooke, A., additional, Tuokkola, J., additional, van Dam, E., additional, van den Hurk, T.A.M., additional, van der Ploeg, E.M.C., additional, Vande Kerckhove, K., additional, Van Driessche, M., additional, van Wegberg, A.M.J., additional, van Wyk, K., additional, Vasconcelos, C., additional, Velez García, V., additional, Wildgoose, J., additional, Winkler, T., additional, Żółkowska, J., additional, Zuvadelli, J., additional, and MacDonald, A., additional

Published
2018
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3. Dietary practices in propionic acidemia: A European survey

Author

Daly, A., primary, Pinto, A., additional, Evans, S., additional, Almeida, M.F., additional, Assoun, M., additional, Belanger-Quintana, A., additional, Bernabei, S.M., additional, Bollhalder, S., additional, Cassiman, D., additional, Champion, H., additional, Chan, H., additional, Dalmau, J., additional, de Boer, F., additional, de Laet, C., additional, de Meyer, A., additional, Desloovere, A., additional, Dianin, A., additional, Dixon, M., additional, Dokoupil, K., additional, Dubois, S., additional, Eyskens, F., additional, Faria, A., additional, Fasan, I., additional, Favre, E., additional, Feillet, F., additional, Fekete, A., additional, Gallo, G., additional, Gingell, C., additional, Gribben, J., additional, Kaalund Hansen, K., additional, Ter Horst, N.M., additional, Jankowski, C., additional, Janssen-Regelink, R., additional, Jones, I., additional, Jouault, C., additional, Kahrs, G.E., additional, Kok, I.L., additional, Kowalik, A., additional, Laguerre, C., additional, Le Verge, S., additional, Lilje, R., additional, Maddalon, C., additional, Mayr, D., additional, Meyer, U., additional, Micciche, A., additional, Och, U., additional, Robert, M., additional, Rocha, J.C., additional, Rogozinski, H., additional, Rohde, C., additional, Ross, K., additional, Saruggia, I., additional, Schlune, A., additional, Singleton, K., additional, Sjoqvist, E., additional, Skeath, R., additional, Stolen, L.H., additional, Terry, A., additional, Timmer, C., additional, Tomlinson, L., additional, Tooke, A., additional, Vande Kerckhove, K., additional, van Dam, E., additional, van den Hurk, T., additional, van der Ploeg, L., additional, van Driessche, M., additional, van Rijn, M., additional, van Wegberg, A., additional, Vasconcelos, C., additional, Vestergaard, H., additional, Vitoria, I., additional, Webster, D., additional, White, F.J., additional, White, L., additional, Zweers, H., additional, and MacDonald, A., additional

Published
2017
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4. Dietary practices in isovaleric acidemia: A European survey

Author

Pinto, A., primary, Daly, A., additional, Evans, S., additional, Almeida, M.F., additional, Assoun, M., additional, Belanger-Quintana, A., additional, Bernabei, S., additional, Bollhalder, S., additional, Cassiman, D., additional, Champion, H., additional, Chan, H., additional, Dalmau, J., additional, de Boer, F., additional, de Laet, C., additional, de Meyer, A., additional, Desloovere, A., additional, Dianin, A., additional, Dixon, M., additional, Dokoupil, K., additional, Dubois, S., additional, Eyskens, F., additional, Faria, A., additional, Fasan, I., additional, Favre, E., additional, Feillet, F., additional, Fekete, A., additional, Gallo, G., additional, Gingell, C., additional, Gribben, J., additional, Kaalund-Hansen, K., additional, Horst, N., additional, Jankowski, C., additional, Janssen-Regelink, R., additional, Jones, I., additional, Jouault, C., additional, Kahrs, G.E., additional, Kok, I.L., additional, Kowalik, A., additional, Laguerre, C., additional, Le Verge, S., additional, Lilje, R., additional, Maddalon, C., additional, Mayr, D., additional, Meyer, U., additional, Micciche, A., additional, Robert, M., additional, Rocha, J.C., additional, Rogozinski, H., additional, Rohde, C., additional, Ross, K., additional, Saruggia, I., additional, Schlune, A., additional, Singleton, K., additional, Sjoqvist, E., additional, Stolen, L.H., additional, Terry, A., additional, Timmer, C., additional, Tomlinson, L., additional, Tooke, A., additional, Vande Kerckhove, K., additional, van Dam, E., additional, van den Hurk, T., additional, van der Ploeg, L., additional, van Driessche, M., additional, van Rijn, M., additional, van Teeffelen-Heithoff, A., additional, van Wegberg, A., additional, Vasconcelos, C., additional, Vestergaard, H., additional, Vitoria, I., additional, Webster, D., additional, White, F.J., additional, White, L., additional, Zweers, H., additional, and MacDonald, A., additional

Published
2017
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5. Weaning practices in phenylketonuria vary between health professionals in Europe.

Author

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 E, van den Hurk TAM, van der Ploeg EMC, Vande Kerckhove K, Van Driessche M, van Wegberg AMJ, van Wyk K, Vasconcelos C, Velez García V, Wildgoose J, Winkler T, Żółkowska J, Zuvadelli J, and MacDonald A

Abstract

Background: In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe., Methods: A cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis., Results: Weaning started at 17-26 weeks in 85% ( n  = 81/95) of centres, >26 weeks in 12% ( n  = 11/95) and < 17 weeks in 3% ( n  = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% ( n  = 48/95) of centres introduced Phe containing foods at 17-26 weeks and 48% ( n  = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n  = 56/95) and fruit (34%, n  = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% ( n  = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% ( n  = 39/95) of centres at infant age 26-36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% ( n  = 35/95) at infant age > 1y mainly from Southern Europe. 53% ( n  = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form., Conclusions: Weaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.

Published
2018
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7. When should social service referral be considered in phenylketonuria?

Author

van Rijn M, Ahring K, Bélanger-Quintana A, Dokoupil K, Ozel HG, Lammardo AM, Robert M, Rocha JC, and MacDonald A

Abstract

Lifelong low-phenylalanine (Phe) dietary management is the foundation of care in phenylketonuria (PKU). However, strict monitoring of food intake places a burden on patients and their caregivers, and adherence to the required diet frequently decreases in later childhood and adolescence. Rarely, parents of children with PKU refuse to recognise the importance of treatment and follow-up for this chronic condition. Here, two case studies are presented that document consideration of placement of children into foster care or kinship homes as a last resort to improve persistently high Phe concentrations. In the first case, social service referral led to a 3-year-old girl being placed in a kinship home with her grandparents, resulting in excellent Phe control thereafter. In the second case, discussion with the parents of possible placement of a 12-year-old child into foster care was sufficient to have a positive effect on Phe control. A staged approach for managing intractable non-adherence in PKU is proposed.

Published
2015
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