Search Results - "Belanger Quintana, A."

The complete European guidelines on phenylketonuria: diagnosis and treatment by van Wegberg, A M J, MacDonald, A, Ahring, K, Bélanger-Quintana, A, Blau, N, Bosch, A M, Burlina, A, Campistol, J, Feillet, F, Giżewska, M, Huijbregts, S C, Kearney, S, Leuzzi, V, Maillot, F, Muntau, A C, van Rijn, M, Trefz, F, Walter, J H, van Spronsen, F J

“…Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that…”
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Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers by Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C.

“…Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in…”
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PKU dietary handbook to accompany PKU guidelines by MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, Coşkun, T, Feillet, F, Giżewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F, van Spronsen, F J

“…Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that…”
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Protein substitutes for phenylketonuria in Europe: access and nutritional composition by Pena, M J, de Almeida, M F, van Dam, E, Ahring, K, Bélanger-Quintana, A, Dokoupil, K, Gokmen-Ozel, H, Lammardo, A M, MacDonald, A, Robert, M, Rocha, J C

“…Background/Objectives: Protein substitutes (PS) are an essential component in the dietary management of phenylketonuria (PKU). PS are available as…”
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Blood phenylalanine control in phenylketonuria: a survey of 10 European centres by Ahring, K, Bélanger-Quintana, A, Dokoupil, K, Gokmen-Ozel, H, Lammardo, A.M, MacDonald, A, Motzfeldt, K, Nowacka, M, Robert, M, Rijn, M. van

“…Background: Only limited data are available on the blood phenylalanine (Phe) concentrations achieved in European patients with phenylketonuria (PKU) on a…”
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Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy by Merinero, B., Pérez‐Cerdá, C., Ruiz Sala, P., Ferrer, I., García, M. J., Martínez Pardo, M., Belanger‐Quintana, A., Mota, J. L., Martin‐Hernández, E., Vianey‐Saban, C., Bischoff, C., Gregersen, N., Ugarte, M.

“…Summary High concentrations of butyryl/isobutyrylcarnitine (C4‐carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different…”
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Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries by Evers, R.A.F., van Wegberg, A.M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A.M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S.C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A.C., Rocha, J.C., Romani, C., Trefz, F.K., MacDonald, A., van Spronsen, F.J.

“…A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4…”
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Micronutrient status in phenylketonuria by Robert, M., Rocha, J.C., van Rijn, M., Ahring, K., Bélanger-Quintana, A., MacDonald, A., Dokoupil, K., Gokmen Ozel, H., Lammardo, A.M., Goyens, P., Feillet, F.

“…Patients with phenylketonuria (PKU) encompass an ‘at risk’ group for micronutrient imbalances. Optimal nutrient status is challenging particularly when a…”
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Correction to: PKU dietary handbook to accompany PKU guidelines by MacDonald, A, van Wegberg, A. M. J, Ahring, K, Beblo, S, Bélanger-Quintana, A, Burlina, A, Campistol, J, CoÅkun, T, Feillet, F, Giżewska, M, Huijbregts, S. C, Leuzzi, V, Maillot, F, Muntau, A. C, Rocha, J. C, Romani, C, Trefz, F, van Spronsen, F. J

“…An amendment to this paper has been published and can be accessed via the original article…”
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Diet in phenylketonuria: A snapshot of special dietary costs and reimbursement systems in 10 international centers by Belanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A.M., MacDonald, A., Motzfeldt, K., Nowacka, M., Robert, M., van Rijn, M., Ahring, K.

“…To gather exploratory data on the costs and reimbursement of special dietary foods used in the management of phenylketonuria (PKU) from ten international…”
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Main issues in micronutrient supplementation in phenylketonuria by Lammardo, A.M., Robert, M., Rocha, J.C., van Rijn, M., Ahring, K., Bélanger-Quintana, A., MacDonald, A., Dokoupil, K., Ozel, H. Gokmen, Goyens, P., Feillet, F.

“…For almost all patients with PKU, a low phenylalanine diet is the basis of the treatment despite a widely varying natural protein tolerance. A vitamin and…”
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The challenges of managing coexistent disorders with phenylketonuria: 30 cases by MacDonald, A., Ahring, K., Almeida, M.F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A.S., Kamieńska, E., Maillot, F., Lammardo, A.M., Muntau, A.C., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F.K., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.

“…The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The…”
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Early feeding practices in infants with phenylketonuria across Europe by Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Bernabei, S.M., Bontemps, C., Boyle, F., Bruni, G., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Correia, C., Corthouts, K., De Leo, S., Desloovere, A., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., 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, I.L., 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., Pereira, R., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., Ruiz, M., Saligova, J., Gutiérrez-Sánchez, A., Schlune, A., Schulpis, K., Skeath, R., Slabbert, A., Straczek, K., Giżewska, M., Terry, A., Thom, R., Tooke, A., Tuokkola, J., van Dam, E., van den Hurk, T.A.M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J.

“…In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant…”
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Dietary practices in propionic acidemia: A European survey by Daly, A., Pinto, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S.M., 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, N.M., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L.H., 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, F.J., White, L., Zweers, H., MacDonald, A.

“…The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key…”
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Weaning practices in phenylketonuria vary between health professionals in Europe by Adams, S., Ahring, K., Allen, H., Almeida, M.F., Garcia-Arenas, D., Arslan, N., Assoun, M., Atik Altınok, Y., Barrio-Carreras, D., Belanger Quintana, A., Bernabei, S.M., Bontemps, C., Bruni, G., Caine, G., Carvalho, R., Chrobot, A., Chyż, K., Cochrane, B., Corthouts, K., De Leo, S., De Meyer, A., De Theux, A., Didycz, B., Dijsselhof, M.E., Dokoupil, K., Drabik, J., Eberle-Pelloth, W., Eftring, K., Ekengren, J., Errekalde, I., Evans, S., Foucart, A., Fokkema, L., François, L., Forssell, E., Gingell, 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, I.L., 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., Plutowska-Hoffmann, K., Purves, J., Re Dionigi, A., Reinson, K., Robert, M., Robertson, L., Rocha, J.C., Rohde, C., Rosenbaum-Fabian, S., 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, T.A.M., van Wegberg, A.M.J., van Wyk, K., Vasconcelos, C., Velez García, V., Wildgoose, J., Winkler, T., Żółkowska, J., Zuvadelli, J.

“…In phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace…”
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Use of sapropterin in the management of phenylketonuria: Seven case reports by Gokmen Ozel, H., Lammardo, A.M., Motzfeldt, K., Robert, M., Rocha, J.C., van Rijn, M., Ahring, K., Bélanger-Quintana, A., MacDonald, A., Dokoupil, K.

“…Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the…”
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Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey by Gokmen Ozel, H, Ahring, K, Bélanger-Quintana, A, Dokoupil, K, Lammardo, A M, Robert, M, Rocha, J C, Almeida, M F, van Rijn, M, MacDonald, A

“…In PKU there is little data comparing the prevalence of overweight and obesity in different countries. The aim of this cross sectional study was to evaluate…”
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Outcomes of Phenylketonuria with Relevance to Follow-Up by van Spronsen, F. J., Bélanger-Quintana, A.

“…Currently, there is no international consensus on how patients with phenylketonuria (PKU) (or milder forms of hyperphenylalaninaemia) should be followed in…”
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Dietary practices in isovaleric acidemia: A European survey by Pinto, A., Daly, A., Evans, S., Almeida, M.F., 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, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., 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, F.J., White, L., Zweers, H., MacDonald, A.

“…In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management. To describe…”
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Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy by Arrieta Blanco, F, Bélanger Quintana, A, Vázquez Martínez, C, Martínez Pardo, M

“…The phenylalanine hydroxylase (PAH) in the liver hydroxylates phenylalanine from the diet. Fetuses depend for the hydroxylation of phenylalanine the maternal…”
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