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

Year Number of Results
1989 1
1992 1
1993 1
1997 1
1999 3
2000 2
2001 3
2002 2
2003 1
2004 2
2005 1
2007 4
2008 1
2009 1
2011 1
2012 1
2014 3
2015 3
2016 2
2017 2
2018 1
2020 2
2021 2
2022 4
2023 1
2024 0

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39 results

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Page 1
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V. Manti F, et al. Among authors: schiaffino mc. Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24. Mol Genet Metab. 2020. PMID: 32651154
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: schiaffino mc. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: schiaffino mc. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
Long term follow-up in two siblings with Sengers syndrome: Case report.
Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: schiaffino mc. Ital J Pediatr. 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. Ital J Pediatr. 2022. PMID: 36253788 Free PMC article.
Phenylketonuria: diet for life or not?
Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Cerone R, et al. Among authors: schiaffino mc. Acta Paediatr. 1999 Jun;88(6):664-6. doi: 10.1080/08035259950169350. Acta Paediatr. 1999. PMID: 10419254
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Ardissone A, Bruno C, Diodato D, Donati A, Ghezzi D, Lamantea E, Lamperti C, Mancuso M, Martinelli D, Primiano G, Procopio E, Rubegni A, Santorelli F, Schiaffino MC, Servidei S, Tubili F, Bertini E, Moroni I. Ardissone A, et al. Among authors: schiaffino mc. Orphanet J Rare Dis. 2021 Oct 9;16(1):413. doi: 10.1186/s13023-021-02029-3. Orphanet J Rare Dis. 2021. PMID: 34627336 Free PMC article.
Short-term survival of hyperammonemic neonates treated with dialysis.
Picca S, Dionisi-Vici C, Bartuli A, De Palo T, Papadia F, Montini G, Materassi M, Donati MA, Verrina E, Schiaffino MC, Pecoraro C, Iaccarino E, Vidal E, Burlina A, Emma F. Picca S, et al. Among authors: schiaffino mc. Pediatr Nephrol. 2015 May;30(5):839-47. doi: 10.1007/s00467-014-2945-x. Epub 2014 Sep 4. Pediatr Nephrol. 2015. PMID: 25185886
Pregnancy and tyrosinaemia type II.
Cerone R, Fantasia AR, Castellano E, Moresco L, Schiaffino MC, Gatti R. Cerone R, et al. Among authors: schiaffino mc. J Inherit Metab Dis. 2002 Aug;25(4):317-8. doi: 10.1023/a:1016558510123. J Inherit Metab Dis. 2002. PMID: 12227462
39 results