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Year Number of Results
1984 3
1986 2
1987 3
1988 3
1989 2
1990 2
1991 1
1992 4
1993 5
1994 7
1995 3
1996 7
1997 1
1998 3
1999 5
2000 7
2001 5
2002 4
2003 3
2004 4
2005 5
2006 6
2007 4
2008 3
2009 2
2010 2
2011 1
2012 3
2013 1
2014 4
2015 9
2016 4
2017 4
2018 4
2019 4
2020 4
2021 2
2022 6
2023 6
2024 1

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143 results

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Page 1
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: burlina ab. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: burlina ab. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Gragnaniello V, Burlina AP, Commone A, Gueraldi D, Puma A, Porcù E, Stornaiuolo M, Cazzorla C, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab. Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031. Int J Neonatal Screen. 2023. PMID: 37367212 Free PMC article. Review.
Newborn screening of mucopolysaccharidosis type I.
Burlina AB, Gragnaniello V. Burlina AB, et al. Crit Rev Clin Lab Sci. 2022 Jun;59(4):257-277. doi: 10.1080/10408363.2021.2021846. Epub 2022 Jan 17. Crit Rev Clin Lab Sci. 2022. PMID: 35037566
Nutrition in adult patients with selected lysosomal storage diseases.
Carubbi F, Barbato A, Burlina AB, Francini F, Mignani R, Pegoraro E, Landini L, De Danieli G, Bruni S, Strazzullo P; Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases. Carubbi F, et al. Among authors: burlina ab. Nutr Metab Cardiovasc Dis. 2021 Mar 10;31(3):733-744. doi: 10.1016/j.numecd.2020.11.028. Epub 2020 Dec 9. Nutr Metab Cardiovasc Dis. 2021. PMID: 33589321 Review.
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab. Mol Genet Metab Rep. 2022 Oct 22;33:100929. doi: 10.1016/j.ymgmr.2022.100929. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36310651 Free PMC article.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Among authors: burlina ab. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME. Derks B, et al. Among authors: burlina ab. Orphanet J Rare Dis. 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. Orphanet J Rare Dis. 2022. PMID: 36056436 Free PMC article.
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: burlina ab. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
143 results