Sfoglia per AUTORE
BURLINA A
Collezione AOU Città della Salute di Torino

  

Items : 8

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus. in Internal and emergency medicine / Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7.
2023
AOU Città della Salute di Torino

Scopinaro A; Spada M; Pession A; Mariani P; Manna R; Giuffrida G; Giona F; Galeone C; Fiumara A; Fecarotta S; Dionisi-Vici C; Donati MA; Di Rocco M; Deodato F; Concolino D; Burlina A; Bisconti A; Barbato A; Scarpa M; Spandonaro F; Trifirò G; Carubbi F; Cappellini MD;

Opinion, knowledge, and clinical experience with functional neurological disorders among Italian neurologists: results from an online survey. in Journal of neurology / J Neurol. 2022 May;269(5):2549-2559. doi: 10.1007/s00415-021-10840-y. Epub 2021 Oct 19.
2022
AOU Città della Salute di Torino

Tedeschi G; Tesolin L; Teatini F; Pellegrini M; Marchioretto F; Mancardi G; Lopiano L; Guidoni SV; Giometto B; Cortelli P; Corbetta M; Calabria F; Cagnin A; Burlina A; Bonifati DM; Bonetti B; Berardelli A; Fiorio M; Tinazzi M; Turinese E; Zappia M; Marotta A;

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience. in International journal of neonatal screening / Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047.
2022
AOU Città della Salute di Torino

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; et alii...

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. in Nature communications / Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
2021
AOU Città della Salute di Torino

Kuseyri Hübschmann O; Horvath G; Cortès-Saladelafont E; Y?ld?z Y; Mastrangelo M; Pons R; Friedman J; Mercimek-Andrews S; Wong SN; Pearson TS; Zafeiriou DI; Kulhánek J; Kurian MA; López-Laso E; Oppebøen M; K?lavuz S; Wassenberg T; Goez H; Scholl-Bürgi S; Porta F; Honzík T; Santer R; Burlina A; Sivri HS; Leuzzi V; Hoffmann GF; Jeltsch K; Hübschmann D; Garbade SF; et alii...

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. in Molecular genetics and metabolism / Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. doi: 10.1016/j.ymgme.2020.06.009. Epub 2020 Jun 24.
2020
AOU Città della Salute di Torino

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; Nardecchia F; Banderali G; Burlina A; Carducci C; Carducci C; Donati MA; Gueraldi D; Paci S; Pochiero F; Porta F; Ortolano R; et alii...

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8.
2020
AOU Città della Salute di Torino

Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; et alii...

The Genetic Landscape and Epidemiology of Phenylketonuria. in American journal of human genetics / Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14.
2020
AOU Città della Salute di Torino

Hillert A; Anikster Y; Belanger-Quintana A; Burlina A; Burton BK; Carducci C; Chiesa AE; Christodoulou J; ?or?evi? M; Desviat LR; Eliyahu A; Evers RAF; Fajkusova L; Feillet F; Bonfim-Freitas PE; Gi?ewska M; Gundorova P; Karall D; Kneller K; Kutsev SI; Leuzzi V; Levy HL; Lichter-Konecki U; Muntau AC; Namour F; Oltarzewski M; Paras A; Perez B; Polak E; et alii...

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2020 Aug 5;15(1):202. doi: 10.1186/s13023-020-01464-y.
2020
AOU Città della Salute di Torino

Opladen T; López-Laso E; Cortès-Saladelafont E; Pearson TS; Sivri HS; Yildiz Y; Assmann B; Kurian MA; Leuzzi V; Heales S; Pope S; Porta F; García-Cazorla A; Honzík T; Pons R; Regal L; Goez H; Artuch R; Hoffmann GF; Horvath G; Thöny B; Scholl-Bürgi S; Burlina A; Verbeek MM; Mastrangelo M; Friedman J; Wassenberg T; Jeltsch K; Kulhánek J; et alii...