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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. 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.
How strict is galactose restriction in adults with galactosaemia? International practice.
Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Müller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjöqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, Zweers H. Adam S, et al. Mol Genet Metab. 2015 May;115(1):23-6. doi: 10.1016/j.ymgme.2015.03.008. Epub 2015 Apr 7. Mol Genet Metab. 2015. PMID: 25873073
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 E, van… See abstract for full author list ➔ Pinto A, et al. 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.
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 E, van… See abstract for full author list ➔ Pinto A, et al. 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.
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.
Grünert SC, Elling R, Maag B, Wortmann SB, Derks TGJ, Hannibal L, Schumann A, Rosenbaum-Fabian S, Spiekerkoetter U. Grünert SC, et al. Among authors: rosenbaum fabian s. Orphanet J Rare Dis. 2020 Aug 24;15(1):218. doi: 10.1186/s13023-020-01503-8. Orphanet J Rare Dis. 2020. PMID: 32838757 Free PMC article.
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.
Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, Jung A, Schönherr K, Joerg-Streller M, Luttat S, Matzgen S, Winkler T, Rosenbaum-Fabian S, Joos O, Beblo S. Rohde C, et al. Among authors: rosenbaum fabian s. Orphanet J Rare Dis. 2021 Nov 18;16(1):477. doi: 10.1186/s13023-021-02108-5. Orphanet J Rare Dis. 2021. PMID: 34794480 Free PMC article.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S. Grohmann-Held K, et al. Among authors: rosenbaum fabian s. J Inherit Metab Dis. 2022 Nov;45(6):1070-1081. doi: 10.1002/jimd.12544. Epub 2022 Aug 22. J Inherit Metab Dis. 2022. PMID: 36054426
Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: rosenbaum fabian s. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
17 results