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Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: federico a. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Among authors: federico a. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.
Stelten BML, Dotti MT, Verrips A, Elibol B, Falik-Zaccai TC, Hanman K, Mignarri A, Sithole B, Steiner RD, Verma S, Yahalom G, Zubarioglu T, Mochel F, Federico A. Stelten BML, et al. Among authors: federico a. Orphanet J Rare Dis. 2021 Aug 6;16(1):353. doi: 10.1186/s13023-021-01980-5. Orphanet J Rare Dis. 2021. PMID: 34362411 Free PMC article.
Late diagnosis in severe and mild intellectual disability in adulthood.
Verri AP, Maraschio P, Uggetti C, Pucci E, Ronchi G, Nespoli L, Destefani V, Ramponi A, Federico A. Verri AP, et al. Among authors: federico a. J Intellect Disabil Res. 2004 Oct;48(Pt 7):679-86. doi: 10.1111/j.1365-2788.2003.00593.x. J Intellect Disabil Res. 2004. PMID: 15357688
Oral self-mutilation in a patient with rhombencephalosynapsys.
Verri A, Uggetti C, Vallero E, Ceroni M, Federico A. Verri A, et al. Among authors: federico a. J Intellect Disabil Res. 2000 Feb;44 ( Pt 1):86-90. doi: 10.1046/j.1365-2788.2000.00242.x. J Intellect Disabil Res. 2000. PMID: 10711654 Review.
1,136 results