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Page 1
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: de boer f. 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.
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: de laet c, de meyer a, de boer f. 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: de laet c, de meyer a, de boer f. 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.
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, Maiorana A, Bordugo A, Dianin A, Campana C, Rigoldi M, Kishnani PS, Pendyal S, Strisciuglio P, Gasperini S, Parenti G, Parini R, Paci S, Melis D, Derks TGJ. Rossi A, et al. Among authors: de boer f. J Inherit Metab Dis. 2020 Jul;43(4):770-777. doi: 10.1002/jimd.12224. Epub 2020 Feb 26. J Inherit Metab Dis. 2020. PMID: 32064649 Free PMC article.
The potential of dietary treatment in patients with glycogen storage disease type IV.
Derks TGJ, Peeks F, de Boer F, Fokkert-Wilts M, van der Doef HPJ, van den Heuvel MC, Szymańska E, Rokicki D, Ryan PT, Weinstein DA. Derks TGJ, et al. Among authors: de boer f. J Inherit Metab Dis. 2021 May;44(3):693-704. doi: 10.1002/jimd.12339. Epub 2020 Dec 21. J Inherit Metab Dis. 2021. PMID: 33332610 Free PMC article.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M; CONNECT MetabERN Collaboration Group; Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ. Rossi A, et al. Among authors: de boer f. J Inherit Metab Dis. 2021 Sep;44(5):1124-1135. doi: 10.1002/jimd.12386. Epub 2021 May 4. J Inherit Metab Dis. 2021. PMID: 33844307 Free PMC article.
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Among authors: de boer f. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.
Hoogeveen IJ, de Boer F, Boonstra WF, van der Schaaf CJ, Steuerwald U, Sibeijn-Kuiper AJ, Vegter RJK, van der Hoeven JH, Heiner-Fokkema MR, Clarke KC, Cox PJ, Derks TGJ, Jeneson JAL. Hoogeveen IJ, et al. Among authors: de boer f. J Inherit Metab Dis. 2021 Jan;44(1):226-239. doi: 10.1002/jimd.12302. Epub 2020 Sep 7. J Inherit Metab Dis. 2021. PMID: 33448466 Free PMC article. Clinical Trial.
127 results