Schiaffino MC - Search Results

1

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

2

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

3

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.

4

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.

5

Tyrosinemia type III: diagnosis and ten-year follow-up.

Cerone R, Holme E, Schiaffino MC, Caruso U, Maritano L, Romano C. Cerone R, et al. Among authors: schiaffino mc. Acta Paediatr. 1997 Sep;86(9):1013-5. doi: 10.1111/j.1651-2227.1997.tb15192.x. Acta Paediatr. 1997. PMID: 9343288

6

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

Cerone R, Schiaffino MC, Caruso U, Lupino S, Gatti R. Cerone R, et al. Among authors: schiaffino mc. J Inherit Metab Dis. 1999 May;22(3):247-50. doi: 10.1023/a:1005521702298. J Inherit Metab Dis. 1999. PMID: 10384379 No abstract available.

7

Phenylketonuria: diet for life or not?

Cerone R, Schiaffino MC, Di Stefano S, Veneselli E. Cerone R, et al. Among authors: schiaffino mc. Acta Paediatr. 1999 Jun;88(6):664-6. doi: 10.1080/08035259950169350. Acta Paediatr. 1999. PMID: 10419254

8

[Evaluation of a new amino acid mixture for the treatment of phenylketonuria].

Cerone R, Barella C, Fantasia AR, Schiaffino MC. Cerone R, et al. Among authors: schiaffino mc. Minerva Pediatr. 1999 Nov-Dec;51(11-12):403-6. Minerva Pediatr. 1999. PMID: 10768006 Italian.

9

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III.

Rüetschi U, Cerone R, Pérez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E. Rüetschi U, et al. Among authors: schiaffino mc. Hum Genet. 2000 Jun;106(6):654-62. doi: 10.1007/s004390000307. Hum Genet. 2000. PMID: 10942115

10

Facial anomalies in combined methylmalonic aciduria and homocystinuria.

Cerone R, Schiaffino MC, Caruso U, Gatti R. Cerone R, et al. Among authors: schiaffino mc. Am J Med Genet. 2000 Nov 6;95(1):87. Am J Med Genet. 2000. PMID: 11074504 No abstract available.

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