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Items: 3

1.

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
2.

Clinical manifestations and management of four children with Pearson syndrome.

Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittalà A, Lo Nigro L, Russo G, Di Cataldo A.

Am J Med Genet A. 2011 Dec;155A(12):3063-6. doi: 10.1002/ajmg.a.34288. Epub 2011 Oct 19.

PMID:
22012855
3.

Epilepsy in patients with Angelman syndrome.

Fiumara A, Pittalà A, Cocuzza M, Sorge G.

Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Review.

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