A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients: Insight into Estimation or Measurement of Dietary Intake

Autor: Godfried H.J. Boers, Aeltsje Brinksma, Jolanda Jansma, Rob C.A. Sengers, H. W. de Valk, H. Termeulen, N.M. Ter Horst, M. E. Rubio-Gozalbo, Margreet van Rijn, E. Carbasius-Weber, Henk D. Bakker, J. B. C. de Klerk, L. van den Ploeg, J.P. Sels, A. van den Herberg, T. J. de Koning, Francjan J. van Spronsen, H. Zweers, A.C. Douwes

Publikováno v: van Rijn, M, Jansma, J, Brinksma, A, Bakker, H D, Boers, G H, Carbasius-Weber, E, Douwes, A C, van den Herberg, A, Ter Horst, N M, de Klerk, J B, de Koning, T J, van den Ploeg, L, Rubio-Gozalbo, M E, Sels, J P, Sengers, R C, de Valk, H W, Termeulen, H S, Zweers, H & van Spronsen, F J 2008, ' A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake ', Journal of the American Dietetic Association, vol. 108, no. 10, pp. 1704-1707 . https://doi.org/10.1016/j.jada.2008.07.008
Journal of the american dietetic association, 108(10), 1704-1707. AMER DIETETIC ASSOC
Journal of the American Dietetic Association, 108(10), 1704-1707. Elsevier USA

This study investigated which methods patients and parents used to determine phenylalanine (Phe) intake and the relationship between the methods applied, age, and blood Phe concentration, as this practice had not been studied before in relation to me

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https://doi.org/10.1016/j.jada.2008.07.008

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

Autor: M.C. de Vries, J. B. C. de Klerk, Pieter J. J. Sauer, T. J. de Koning, M. van Rijn, Annet M. Bosch, F. J. van Spronsen, Paul H. Verkerk, Marieke Hoeksma, Margot F. Mulder, Estela Rubio-Gozalbo

Publikováno v: Journal of inherited metabolic disease, 28(6), 845-854. Springer Netherlands
Journal of Inherited Metabolic Disease, 28, 845-854. Springer Netherlands
Journal of Inherited Metabolic Disease, 28(6), 845-854. Wiley
Journal of Inherited Metabolic Disease, 28(6), 845-854. SPRINGER
Journal of Inherited Metabolic Disease, 6, 28, 845-854

In a previous study, Dutch children with phenylketonuria (PKU) were found to be slightly shorter than their healthy counterparts. In the literature, it has been hypothesized that a higher protein intake is necessary to optimize growth in PKU patients

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https://research.rug.nl/en/publications/2247be1b-5d8e-46d6-a1fd-77c595758efa

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

Autor: Grazia M.S. Mancini, L. Stojanov, J. G. M. Huijmans, Ruben H. Willemsen, J. B. C. de Klerk, O. P. van Diggelen, V.D. Vuzevski, W. J. Kleijer, Arnold P. Oranje

Publikováno v: Dermatology, 198, 18-25. Karger

Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibrom

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https://doi.org/10.1159/000018058

AMNIOTIC FLUID ODD-CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA

Autor: C. Jakobs, M. Duran, Mahmut Çoker, Wim J. Kleijer, J. G. M. Huijmans, J. B. C. de Klerk

Publikováno v: Prenatal Diagnosis. 16:941-944

Odd-chain (C 15 and C 17 ) fatty acids have been reported to accumulate in tissues and body fluids of patients with propionic and methylmalonic acidaemia. We investigated the occurrence of these substances in amniotic fluid samples. The odd-chain fat

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https://doi.org/10.1002/(sici)1097-0223(199610)16:10<941::aid-pd965>3.0.co

Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

Autor: K. Björkegren, C. Bergmark, U. de Faire, M. Azam Mansoor, A. Svardal, A. G. Bostom, R. Roubenoff, P. Dellaripa, M. R. Nadeau, P. Sutherland, P. W. F. Wilson, P. F. Jacques, J. Selhub, I. H. Rosenberg, J. T. Brosnan, B. Hall, D. Shemin, K. L. Lapane, R. R. Williams, R. C. Ellison, G. J. Cuskelly, H. McNulty, J. J. Strain, J. M. McPartlin, J. M. Scott, B. Chadefaux-Vekemans, M. Coudé, J. Aupetit, P. Kamoun, B. Aral, M. T. Zabot, R. Calaf, O. Ghiringelli, A. Barlatier, P. Charpiot, P. H. Rolland, D. Garçon, T. Augier, C. Chareyre, A. Chango, F. Hodez, H. Tronel, G. Nuel, F. Michel, S. Frémont, L. Méjean, J. P. Nicolas, M. Candito, P. Chambon, P. Gibelin, J. Amsellem, M. Baudouy, P. Morand, D. Pringuey, V. Aubin-Brunet, F. Beaulieu, G. Darcourt, P. Bedoucha, H. Alchaar, M. Chatel, H. W. de Valk, R. van der Griend, M. K. G. van Eeden, E. de Groot, M. Duran, J. A. M. Smeitink, J. B. C. de Klerk, D. Wittebol-Post, M. -O. Rolland, F. J. L. M. Haas, O. J. A. Th. Meuwissen, J. D. Banga, B. T. Poll-The, J. I. P. de Vries, G. A. Dekker, H. P. van Geijn, P. C. Huigens, C. Jakobs, B. M. E. von Blomberg, R. Deulofeu, M. Giralt, C. Aibar, C. Bauchet, A. M. Ballesta, G. Varela, N. Vila, A. Chamorro, F. J. Casals, J. Diaz Cremades, L. Daly, R. Meleady, I. Graham, M. den Heijer, I. A. Brouwer, W. B. J. Gerrits, G. M. J. Bos, H. J. Blom, T. Koster, J. P. Vandenbroucke, E. Briët, F. R. Rosendaal, G. Fischer, C. Behrend, P. Bartholmes, I. Fermo, R. Paroni, S. Vigano, A. D’Angelo, D. G. Franken, G. H. J. Boers, B. C. J. Hamel, J. H. J. Ruijs, A. Tangerman, A. B. Guttormsen, P. M. Ueland, H. Refsum, E. Svarstad, W. Gao, E. Goldman, H. Jakubowski, G. Sebastio, M. P. Sperandeo, R. de Franchis, G. Andria, T. A. Garrow, J. Hladovec, Z. Sommerova, A. Písariková, C. H. Halsted, J. Villanueva, C. J. Chandler, S. P. Stabler, R. H. Allen, L. Muskhelishvili, S. J. James, L. Poirer, D. W. Jacobsen, S. R. Savon, P. E. DiCorleto, D. Jourdheuil-Rahmani, E. Joosten, R. Riezler, R. Allen, T. Marquardt, K. Ullrich, E. Harms, H. G. Koch, S. Evers, K. H. Grotemeyer, L. Vogelpohl, A. von Eckardstein, T. Deufel, J. Kraus, V. Kozich, M. Janosik, J. Sokolová, G. Bukovská, J. P. Kraus, L. A. J. Kluitmans, L. P. van den Heuvel, E. Stevens, J. M. F. Trubels, B. A. van Oost, S. Kittner, R. Macko, J. R. Hebel, J. Rohr, M. R. Malinow, B. Upson, D. Buchholz, C. Earley, C. Johnson, T. R. Price, J. Rosario, M. Sloan, B. Stern, R. Wityk, M. Wozniak, R. Sherwin, P. Stolley, L. Kluijtmans, L. van den Heuvel, F. Trijbels, H. Blom, G. Boers, B. van Oost, R. Rozen, F. Löhrer, C. Angst, B. Fowler, M. Zaugg, F. Brunner, W. E. Haefeli, B. Nedrebø, U. -B. Ericsson, E. A. Lien, J. London, E. Paly, V. Paul, D. Paris, J. F. Chassé, J. Møller, K. Rasmussen, P. Verhoef, K. E. McMartin, T. J. Phifer, J. S. Alexander, M. Middlebrooks, L. E. Childress, S. Fremont, F. Felden, B. Guerci, C. Creton, P. Drouin, G. P. Oakley, P. R. P. Elias, A. C. Hann, C. G. Curtis, F. A. Rose, N. Tudball, F. Parrot-Roulaud, C. Cochet, B. Catargi, F. Leprat, J. -L. Latapie, A. F. Perna, N. G. De Santo, D. Ingrosso, P. Galletti, V. Zappia, G. Sassoust, P. Boissieras, A. K. Majors, L. A. Ehrhart, E. H. Pezacka, I. J. Perry, R. W. Morris, S. B. Ebrahim, A. G. Shaper, K. Pietrzik, J. Dierkes, M. Kroesen, P. Bung, J. Moller, A. Remacha, F. Garcia-Die, J. Cadafalch, H. J. Barceló, H. Parellada, B. Regland, C. -G. Gottfries, M. Andersson, J. Bagby, L. -E. Dyrehag, L. Abrahamsson, E. Ronge, B. Kjellman, P. Frosst, B. Christensen, P. Goyette, D. S. Rosenblatt, J. Genest, B. Riedel, A. M. Svardal, J. Silberberg, R. Crooks, J. Fryer, C. Ray, X. W. Guo, L. Xie, N. Dudman, X. Guo, B. Smith, D. Kohlman-Trigoboff, S. Simsir, A. J. C. Strydom, E. Schlüssel, G. Preibisch, E. F. E. Elstner, S. Pütter, M. D. E. H. Spuijbroek, T. A. W. Goddijn-Wessel, M. G. A. J. Wouters, E. F. v. d. Molen, R. P. M. Steegers-Theunissen, J. M. F. Trijbels, C. M. G. Thomas, T. K. A. B. Eskes, M. Y. Tsai, N. Hanson, N. Key, K. Schwichtenberg, U. Garg, L. Todesco, N. Pollaert, B. Thorand, M. Hages, W. Holzgreve, M. J. van der Mooren, L. A. Schellekens, R. Rolland, N. v. d. Put, L. v. d. Heuvel, T. Eskes, R. Steegers-Theunissen, E. Mariman, M. d. Heyer, R. Daher, F. Van Lente, A. B. Vilkovsky, I. V. Maev, E. L. Richter, M. D. Kirnus, G. Varela-Moreiras, E. Alonso-Aperte, M. Rubio, M. Gassó, L. Alvarez, J. Caballeria, J. Rodés, J. M. Mato, L. A. G. J. M. van Aerts, J. H. J. Copius Peereboom-Stegeman, J. Noordhoek, L. P. v. d. Heuvel, L. A. H. Monnens, C. van Guidener, M. J. F. M. Janssen, J. Surachno, C. D. A. Stehouwer, M. van den Berg, E. Bierdrager, J. A. Rauwerda, B. Wilcken, J. Hammond, C. J. C. M. Hamilton, G. F. Borm, H. Wang, J. -C. Tsai, M. A. Perrella, M. Yoshizumi, N. E. S. Sibinga, E. Haber, T. H. -T. Chang, R. Schlegel, M. -E. Lee, J. Woodside, D. McMaster, J. Yarnell, I. Young, C. Mercer, K. Byrne, A. Evans, F. Gey, X. M. Gao, G. Dougan, P. Wordsworth, A. McMichael, P. B. Young, D. G. Kennedy, A. M. Molloy, P. Ward, E. Naughten, S. Cahalane, D. Murphy, P. Mayne, P. Chauveau, P. Jungers, D. Z. B. van Asselt, G. M. de Wild, W. A. van Staveren, W. H. L. Hoefnagels, M. Naruszewicz, A. Staniewicz, K. Dziewanowski, J. Evrovski, D. E. C. Cole, Michael Callaghan, A. Lindgren, L. Brattström, B. Hultberg, C. H. Hennekens, W. C. Willett, M. J. Stampfer, F. Frantzen, E. Sundrehagen, F. J. Kok, J. M. Gaziano, R. D. Reynolds, R. -J. Hsu, B. Shane, K. Robinson, K. Kottke-Marchant, R. Green, A. Gupta, D. Jacobsen, E. Mayer, D. Miller, K. Marchant, R. Greene, Y. -Y. Chong, M. Gupta, C. A. Sheppard, R. G. Matthews, H. A. C. M. Kruyssen, J. C. M. Witteman, C. Boushey, S. Beresford, G. Omenn, A. G. Motulsky, O. Nygard, S. E. Vollset, G. Kvale, I. Stensvold, T. Fiskerstrand, K. H. Bugge, A. Oshaug, C. H. Bjønnes, J. T. Wu, L. L. Wu, L. W. Wilson

Publikováno v: Irish Journal of Medical Science. 164:56-83

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https://doi.org/10.1007/bf02967285