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Page 1
Chronic liver involvement in urea cycle disorders.
J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25.
J Inherit Metab Dis. 2019.
PMID: 31260111
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: bernabei sm.
J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155. doi: 10.1515/jpem-2019-0277.
J Pediatr Endocrinol Metab. 2020.
PMID: 31846426
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Evaluation of E-Health Applications for Paediatric Patients with Refractory Epilepsy and Maintained on Ketogenic Diet.
Costa AM, Marchiò M, Bruni G, Bernabei SM, Cavalieri S, Bondi M, Biagini G.
Costa AM, et al. Among authors: bernabei sm.
Nutrients. 2021 Apr 9;13(4):1240. doi: 10.3390/nu13041240.
Nutrients. 2021.
PMID: 33918854
Free PMC article.
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Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Maiorana A, Caviglia S, Greco B, Alfieri P, Cumbo F, Campana C, Bernabei SM, Cusmai R, Mosca A, Dionisi-Vici C.
Maiorana A, et al. Among authors: bernabei sm.
Orphanet J Rare Dis. 2021 Oct 11;16(1):424. doi: 10.1186/s13023-021-02045-3.
Orphanet J Rare Dis. 2021.
PMID: 34635134
Free PMC article.
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