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Items: 1 to 20 of 62

1.

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A.

Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5.

2.

Neuroaspergillosis as the Presenting Sign of a Chronic Granulomatous Disease.

Salomone G, Pavone P, Greco F, Smilari P, Fiumara A, Praticò AD.

Pediatr Neurol. 2020 Jan;102:79-80. doi: 10.1016/j.pediatrneurol.2019.08.008. Epub 2019 Aug 24. No abstract available.

PMID:
31570298
3.

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R.

Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16.

PMID:
31529350
4.

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study.

Cantone M, Lanza G, Le Pira A, Barone R, Pennisi G, Bella R, Pennisi M, Fiumara A.

Brain Sci. 2019 Aug 14;9(8). pii: E200. doi: 10.3390/brainsci9080200.

5.

Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature.

Mazzurco M, Pavone P, Di Luca M, Smilari P, Pustorino E, Fiumara A, Di Mauro P, Greco F, Cocuzza S.

Neuropediatrics. 2019 Dec;50(6):341-345. doi: 10.1055/s-0039-1693156. Epub 2019 Jul 22.

PMID:
31330559
6.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
7.

Multiseptate Gallbladder in a Child: A Possible Cause of Poor Growth?

La Mendola F, Fatuzzo V, Smilari P, Greco F, Belfiore G, Fiumara A, Praticò AD.

J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e13. doi: 10.1097/MPG.0000000000001664. No abstract available.

PMID:
30601795
8.

A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.

Barone R, Alaimo S, Messina M, Pulvirenti A, Bastin J; MIMIC-Autism Group, Ferro A, Frye RE, Rizzo R.

Front Psychiatry. 2018 Dec 7;9:636. doi: 10.3389/fpsyt.2018.00636. eCollection 2018.

9.

Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center.

Portale A, Fiumara A, Scalora L, Greco F, Smilari P, Venti V, Pustorino E, Pavone P.

Childs Nerv Syst. 2019 Feb;35(2):283-293. doi: 10.1007/s00381-018-4017-1. Epub 2018 Dec 12.

PMID:
30542811
10.

Mucopolysaccharidoses: early diagnostic signs in infants and children.

Galimberti C, Madeo A, Di Rocco M, Fiumara A.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):133. doi: 10.1186/s13052-018-0550-5. Review.

11.

Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.

Cucuzza ME, Mendola F, D'Ambra A, Smilari P, Greco F, Fiumara A, Praticò AD.

J Glob Infect Dis. 2018 Jul-Sep;10(3):166-168. doi: 10.4103/jgid.jgid_82_17.

12.

False positive screen test for mucopolysaccharidoses in healthy female newborns.

Monachesi C, Zampini L, Padella L, Marchesiello RL, Galeazzi T, Santoro L, Catassi C, Gasparrini E, Carnielli VP, Volpi N, Fiumara A, Concolino D, Tomanin R, Coppa GV, Gabrielli O.

Clin Chim Acta. 2018 Nov;486:221-223. doi: 10.1016/j.cca.2018.08.016. Epub 2018 Aug 12.

PMID:
30110607
13.

Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis.

Maccari F, Galeotti F, Mantovani V, Zampini L, Padella L, Rigon L, Concolino D, Fiumara A, Pascale E, Pittalà A, Galeazzi T, Monachesi C, Marchesiello RL, Coppa G, Gabrielli O, Volpi N.

Anal Biochem. 2018 Sep 15;557:34-41. doi: 10.1016/j.ab.2018.07.007. Epub 2018 Jul 18.

PMID:
30009765
14.

Hypoglossal nerve paralysis in a child after a dental procedure.

Marino SD, Schiavone L, La Mendola FMC, Timpanaro T, Cucuzza ME, Greco F, Smilari P, Fiumara A, Praticò AD.

Neurol Neurochir Pol. 2018 May - Jun;52(3):406-409. doi: 10.1016/j.pjnns.2018.01.006. Epub 2018 Feb 6.

PMID:
29455904
15.

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B.

Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0.

16.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
17.

Mucopolysaccharidosis at play?

Fiumara A.

Eur J Hum Genet. 2018 Jan;26(1):34-35. doi: 10.1038/s41431-017-0036-8. Epub 2017 Nov 28. No abstract available.

18.

Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.

Gabrielli O, Zampini L, Monachesi C, Marchesiello RL, Padella L, Santoro L, Volpi N, Concolino D, Fiumara A, Rigon L, Mazzoli M, Carnielli VP, Giovagnoni A, Catassi C, Galeazzi T, Coppa GV.

Clin Chim Acta. 2017 May;468:150-151. doi: 10.1016/j.cca.2017.02.020. Epub 2017 Feb 28. No abstract available.

PMID:
28257882
19.

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.

Brain Dev. 2017 Apr;39(4):366-367. doi: 10.1016/j.braindev.2016.11.008. Epub 2016 Dec 4. No abstract available.

PMID:
27923528
20.

Quantitative analysis of upright standing in adults with late-onset Pompe disease.

Valle MS, Casabona A, Fiumara A, Castiglione D, Sorge G, Cioni M.

Sci Rep. 2016 Nov 15;6:37040. doi: 10.1038/srep37040.

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