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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: burlina a. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. Among authors: burlina a. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Among authors: burlina a. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: burlina a. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Among authors: burlina a. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Keller M, et al. Among authors: burlina a. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2. J Inherit Metab Dis. 2021. PMID: 34245036 Free article.
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N. Keil S, et al. Among authors: burlina a. Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20. Pediatrics. 2013. PMID: 23690520
Correction to: Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Among authors: burlina a. Ital J Pediatr. 2019 Jun 11;45(1):71. doi: 10.1186/s13052-019-0665-3. Ital J Pediatr. 2019. PMID: 31186032 Free PMC article.
580 results