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Items: 1 to 20 of 52

1.

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.

2.

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 Aug 12;486:221-223. doi: 10.1016/j.cca.2018.08.016. [Epub ahead of print]

PMID:
30110607
3.

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
4.

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
5.

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.

6.

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 Jan 4. doi: 10.1038/gim.2017.221. [Epub ahead of print]

PMID:
29300384
7.

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.

PMID:
29184168
8.

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
9.

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
10.

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.

11.

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V.

Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9.

PMID:
27838393
12.

Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.

Giuffrida G, Lombardo R, Di Francesco E, Parrinello L, Di Raimondo F, Fiumara A.

J Med Case Rep. 2016 Nov 8;10(1):315.

13.

Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application.

Maccari F, Galeotti F, Zampini L, Padella L, Tomanin R, Concolino D, Fiumara A, Galeazzi T, Coppa G, Gabrielli O, Volpi N.

Clin Chim Acta. 2016 Dec 1;463:67-72. doi: 10.1016/j.cca.2016.10.012. Epub 2016 Oct 11.

PMID:
27737736
14.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

15.

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A.

Clin Chim Acta. 2016 Apr 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11.

PMID:
26790753
16.

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

Ferri L, Cavicchi C, Fiumara A, Parini R, Guerrini R, Morrone A.

Clin Chim Acta. 2016 Jan 15;452:82-6. doi: 10.1016/j.cca.2015.10.027. Epub 2015 Nov 1.

PMID:
26528637
17.

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

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

JIMD Rep. 2016;27:93-9. doi: 10.1007/8904_2015_497. Epub 2015 Oct 10.

18.

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.

Barone R, Sturiale L, Fiumara A, Palmigiano A, Bua RO, Rizzo R, Zappia M, Garozzo D.

Autism Res. 2016 Apr;9(4):423-8. doi: 10.1002/aur.1541. Epub 2015 Aug 19.

PMID:
26286102
19.

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Di Rocco M, Barone R, Madeo A, Fiumara A.

Pediatr Neurol. 2015 Oct;53(4):e15. doi: 10.1016/j.pediatrneurol.2015.06.017. Epub 2015 Jul 8. No abstract available.

PMID:
26255750
20.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G.

Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y.

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