Sibilio M - Search Results

1

Minimal disease activity in Gaucher disease: criteria for definition.

Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, Linari S, Sibilio M, Spina V, Cappellini MD. Di Rocco M, et al. Among authors: sibilio m. Mol Genet Metab. 2012 Nov;107(3):521-5. doi: 10.1016/j.ymgme.2012.08.009. Epub 2012 Aug 17. Mol Genet Metab. 2012. PMID: 22954583

2

Brain damage in glycogen storage disease type I.

Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Melis D, et al. Among authors: sibilio m. J Pediatr. 2004 May;144(5):637-42. doi: 10.1016/j.jpeds.2004.02.033. J Pediatr. 2004. PMID: 15127000

3

Chronic diarrhea in mucopolysaccharidosis IIIB.

Sibilio M, Miele E, Ungaro C, Astarita L, Turco R, Di Natale P, Pontarelli G, Vecchione R, Andria G, Staiano A, Parenti G. Sibilio M, et al. J Pediatr Gastroenterol Nutr. 2009 Oct;49(4):477-80. doi: 10.1097/MPG.0b013e31818a082a. J Pediatr Gastroenterol Nutr. 2009. PMID: 19516195 No abstract available.

4

Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).

Villani GR, Pontarelli G, Kotroni G, Parenti G, Sibilio M, Andria G, Di Natale P. Villani GR, et al. Among authors: sibilio m. Hum Genet. 2006 Jul;119(6):682. doi: 10.1007/s00439-006-0179-0. Hum Genet. 2006. PMID: 16738950 No abstract available.

5

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F. Daniele A, et al. Among authors: sibilio m. FEBS J. 2009 Apr;276(7):2048-59. doi: 10.1111/j.1742-4658.2009.06940.x. FEBS J. 2009. PMID: 19292873 Free article.

6

Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.

Melis D, Parenti G, Della Casa R, Sibilio M, Berni Canani R, Terrin G, Cucchiara S, Andria G. Melis D, et al. Among authors: sibilio m. Acta Paediatr. 2003 Dec;92(12):1415-21. doi: 10.1080/08035250310007033. Acta Paediatr. 2003. PMID: 14971792

7

Impaired gait kinematics in type 1 Gaucher's Disease.

Sorrentino P, Barbato A, Del Gaudio L, Rucco R, Varriale P, Sibilio M, Strazzullo P, Sorrentino G, Agosti V. Sorrentino P, et al. Among authors: sibilio m. J Parkinsons Dis. 2016;6(1):191-5. doi: 10.3233/JPD-150660. J Parkinsons Dis. 2016. PMID: 26756743

8

Left ventricular diastolic dysfunction in type I Gaucher disease: an echo Doppler study.

Lo Iudice F, Barbato A, Muscariello R, Di Nardo C, de Stefano F, Sibilio M, Strazzullo P, de Simone G, Galderisi M. Lo Iudice F, et al. Among authors: sibilio m. Echocardiography. 2015 Jun;32(6):890-5. doi: 10.1111/echo.12759. Epub 2014 Sep 24. Echocardiography. 2015. PMID: 25250513

9

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: sibilio m. BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6. BMC Med Genet. 2018. PMID: 30305043 Free PMC article.

10

Type a niemann-pick disease. Description of three cases with delayed myelination.

D'Amico A, Sibilio M, Caranci F, Bartiromo F, Taurisano R, Balivo F, Melis D, Parenti G, Cirillo S, Elefante R, Brunetti A. D'Amico A, et al. Among authors: sibilio m. Neuroradiol J. 2008 Jun 3;21(3):309-15. doi: 10.1177/197140090802100303. Epub 2008 Jun 3. Neuroradiol J. 2008. PMID: 24256898

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