Schiaffino MC - Search Results

1

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Alpigiani MG, Salvati P, Schiaffino MC, Occella C, Castiglia D, Covaciu C, Lorini R. Alpigiani MG, et al. Among authors: schiaffino mc. Pediatr Dermatol. 2012 Jul-Aug;29(4):521-2. doi: 10.1111/j.1525-1470.2011.01525.x. Epub 2011 Jun 22. Pediatr Dermatol. 2012. PMID: 21692842

2

[Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience].

Cerone R, Cassanello M, Caruso U, Schiaffino MC, Lorini R. Cerone R, et al. Among authors: schiaffino mc. Minerva Pediatr. 2007 Oct;59(5):488-9. Minerva Pediatr. 2007. PMID: 17947884 Italian. No abstract available.

3

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

Schiaffino MC, Bellini C, Costabello L, Caruso U, Jakobs C, Salomons GS, Bonioli E. Schiaffino MC, et al. Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 16086185

4

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Bertamino M, Severino M, Schiaffino MC, Garrè ML, Bocciardi R, Ravazzolo R, Rossi A, Di Rocco M. Bertamino M, et al. Among authors: schiaffino mc. Am J Med Genet A. 2015 Nov;167A(11):2817-21. doi: 10.1002/ajmg.a.37271. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239063 Review.

5

Long-term outcome and need of re-operation in gastro-esophageal reflux surgery in children.

Rossi V, Mazzola C, Leonelli L, Gandullia P, Arrigo S, Pedemonte M, Schiaffino MC, Mancardi M, Sacco O, Disma NM, Zanaboni C, Montobbio G, Barabino A, Mattioli G. Rossi V, et al. Among authors: schiaffino mc. Pediatr Surg Int. 2016 Mar;32(3):277-83. doi: 10.1007/s00383-015-3853-2. Epub 2015 Dec 28. Pediatr Surg Int. 2016. PMID: 26711122

6

Long term follow-up in two siblings with Sengers syndrome: Case report.

Panicucci C, Schiaffino MC, Nesti C, Derchi M, Trocchio G, Severino M, Stagnaro N, Priolo E, Zara F, Santorelli FM, Bruno C. Panicucci C, et al. Among authors: schiaffino mc. Ital J Pediatr. 2022 Oct 17;48(1):180. doi: 10.1186/s13052-022-01370-y. Ital J Pediatr. 2022. PMID: 36253788 Free PMC article.

7

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.

Cerone R, Schiaffino MC, Fantasia AR, Perfumo M, Birk Moller L, Blau N. Cerone R, et al. Among authors: schiaffino mc. Mol Genet Metab. 2004 Feb;81(2):137-9. doi: 10.1016/j.ymgme.2003.11.008. Mol Genet Metab. 2004. PMID: 14741196

8

Computed tomography in maple syrup urine disease.

Taccone A, Schiaffino MC, Cerone R, Fondelli MP, Romano C. Taccone A, et al. Among authors: schiaffino mc. Eur J Radiol. 1992 May-Jun;14(3):207-12. doi: 10.1016/0720-048x(92)90089-r. Eur J Radiol. 1992. PMID: 1563430

9

Plasma amino acids during the first 24 hours of life: feasibility of early diagnosis in the newborn at risk of amino acid disorders.

Caruso U, Cerone R, Fantasia AR, Schiaffino MC, Zignego G, Romano C. Caruso U, et al. Among authors: schiaffino mc. J Inherit Metab Dis. 1989;12 Suppl 2:311-4. doi: 10.1007/BF03335408. J Inherit Metab Dis. 1989. PMID: 2512432 No abstract available.

10

Biochemical diagnosis and follow-up in a new Italian patient with hyperargininaemia.

Gatti R, Cerone R, Caruso U, Schiaffino MC, Ciccone O. Gatti R, et al. Among authors: schiaffino mc. J Inherit Metab Dis. 1993;16(6):1050. doi: 10.1007/BF00711528. J Inherit Metab Dis. 1993. PMID: 8127059 No abstract available.

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