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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: assoun m. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Mauhin W, et al. Among authors: assoun m. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.
Dietary practices in methylmalonic acidaemia: a European survey.
Pinto A, Evans S, Daly A, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Corthouts K, Dalmau J, Boer F, Laet C, 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, Hansen KK, Horst NT, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok I, Kowalik A, Laguerre C, Verge SL, Liguori A, 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, Kerckhove KV, van Dam E, Hurk DVD, Ploeg LV, van Driessche M, van Rijn M, Wegberg AV, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White F, White L, Zweers H, MacDonald A. Pinto A, et al. Among authors: assoun m. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277. J Pediatr Endocrinol Metab. 2020. PMID: 31846426
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: assoun m. 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.
Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease.
Abi-Wardé MT, Roda C, Arnoux JB, Servais A, Habarou F, Brassier A, Pontoizeau C, Barbier V, Bayart M, Leboeuf V, Chadefaux-Vekemans B, Dubois S, Assoun M, Belloche C, Alili JM, Husson MC, Lesage F, Dupic L, Theuil B, Ottolenghi C, de Lonlay P. Abi-Wardé MT, et al. Among authors: assoun m. J Inherit Metab Dis. 2017 Nov;40(6):783-792. doi: 10.1007/s10545-017-0083-x. Epub 2017 Sep 13. J Inherit Metab Dis. 2017. PMID: 28905140
Dietary management of urea cycle disorders: European practice.
Adam S, Almeida MF, Assoun M, Baruteau J, Bernabei SM, Bigot S, Champion H, Daly A, Dassy M, Dawson S, Dixon M, Dokoupil K, Dubois S, Dunlop C, Evans S, Eyskens F, Faria A, Favre E, Ferguson C, Goncalves C, Gribben J, Heddrich-Ellerbrok M, Jankowski C, Janssen-Regelink R, Jouault C, Laguerre C, Le Verge S, Link R, Lowry S, Luyten K, Macdonald A, Maritz C, McDowell S, Meyer U, Micciche A, Robert M, Robertson LV, Rocha JC, Rohde C, Saruggia I, Sjoqvist E, Stafford J, Terry A, Thom R, Vande Kerckhove K, van Rijn M, van Teeffelen-Heithoff A, Wegberg Av, van Wyk K, Vasconcelos C, Vestergaard H, Webster D, White FJ, Wildgoose J, Zweers H. Adam S, et al. Among authors: assoun m. Mol Genet Metab. 2013 Dec;110(4):439-45. doi: 10.1016/j.ymgme.2013.09.003. Epub 2013 Sep 12. Mol Genet Metab. 2013. PMID: 24113687
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, Bihet G, Blom Malmberg K, Burlina A, Bushueva T, Caris A, Chan H, Clark A, Clark S, Cochrane B, Corthouts K, Dalmau J, Dassy M, De Meyer A, Didycz B, Diels M, Dokupil K, Dubois S, Eftring K, Ekengren J, Ellerton C, Evans S, Faria A, Fischer A, Ford S, Freisinger P, Giżewska M, Gokmen-Ozel H, Gribben J, Gunden F, Heddrich-Ellerbrok M, Heiber S, Heidenborg C, Jankowski C, Janssen-Regelink R, Jones I, Jonkers C, Joerg-Streller M, Kaalund-Hansen K, Kiss E, Lammardo AM, Lang K, Lier D, Lilje R, Lowry S, Luyten K, MacDonald A, Meyer U, Moor D, Pal A, Robert M, Robertson L, Rocha JC, Rohde C, Ross K, Saruhan S, Sjöqvist E, Skeath R, Stoelen L, Ter Horst NM, Terry A, Timmer C, Tuncer N, Vande Kerckhove K, van der Ploeg L, van Rijn M, van Spronsen FJ, van Teeffelen-Heithoff A, van Wegberg A, van Wyk K, Vasconcelos C, Vitoria I, Wildgoose J, Webster D, White FJ, Zweers H. Aguiar A, et al. Among authors: assoun m. Mol Genet Metab. 2015 May;115(1):17-22. doi: 10.1016/j.ymgme.2015.03.006. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25862610
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: assoun m. 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.
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… See abstract for full author list ➔ Pinto A, et al. Among authors: assoun m. 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.
15 results