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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 6
2004 7
2005 7
2006 2
2007 10
2008 3
2009 5
2010 5
2011 9
2012 9
2013 9
2014 11
2015 10
2016 5
2017 3
2020 1
2022 2
2024 0

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98 results

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Page 1
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P; Campania Rare Disease Network. Limongelli G, et al. Among authors: andria g. J Public Health (Oxf). 2022 Aug 25;44(3):586-594. doi: 10.1093/pubmed/fdab137. J Public Health (Oxf). 2022. PMID: 33982102 Free PMC article.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. Among authors: andria g. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?
Di Rocco M, Di Fonzo A, Barbato A, Cappellini MD, Carubbi F, Giona F, Giuffrida G, Linari S, Pession A, Quarta A, Scarpa M, Spada M, Strisciuglio P, Andria G. Di Rocco M, et al. Among authors: andria g. Orphanet J Rare Dis. 2020 Sep 23;15(1):262. doi: 10.1186/s13023-020-01529-y. Orphanet J Rare Dis. 2020. PMID: 32967694 Free PMC article.
[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management].
Russo P, Andria G, Baldinelli A, Boffi ML, Cerini E, Della Casa R, Imperatori A, Luciani GB, Morra E, Parini R, Pieroni M, Prioli MA, Ragni L, Rapezzi C, Rinelli G, Rubino M, Sarais C, Sciacca P, Seddio F, Limongelli G. Russo P, et al. Among authors: andria g. G Ital Cardiol (Rome). 2017 Sep;18(9):638-649. doi: 10.1714/2741.27947. G Ital Cardiol (Rome). 2017. PMID: 28845875 Italian.
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.
Melis D, Carbone F, Minopoli G, La Rocca C, Perna F, De Rosa V, Galgani M, Andria G, Parenti G, Matarese G. Melis D, et al. Among authors: andria g. J Immunol. 2017 May 15;198(10):3803-3808. doi: 10.4049/jimmunol.1601946. Epub 2017 Apr 7. J Immunol. 2017. PMID: 28389590 Free PMC article.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. Among authors: andria g. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
The contribution of the citrate pathway to oxidative stress in Down syndrome.
Convertini P, Menga A, Andria G, Scala I, Santarsiero A, Castiglione Morelli MA, Iacobazzi V, Infantino V. Convertini P, et al. Among authors: andria g. Immunology. 2016 Dec;149(4):423-431. doi: 10.1111/imm.12659. Epub 2016 Oct 3. Immunology. 2016. PMID: 27502741 Free PMC article.
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: andria g. Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7. Ital J Pediatr. 2016. PMID: 27072107 Free PMC article.
98 results