Caruso U - Search Results

1

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. Among authors: caruso u. Neurogenetics. 2005 Sep;6(3):165-8. doi: 10.1007/s10048-005-0002-4. Epub 2005 Sep 28. Neurogenetics. 2005. PMID: 16086185

2

Severe epilepsy in X-linked creatine transporter defect (CRTR-D).

Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R. Mancardi MM, et al. Among authors: caruso u. Epilepsia. 2007 Jun;48(6):1211-3. doi: 10.1111/j.1528-1167.2007.01148.x. Epilepsia. 2007. PMID: 17553121 Free article.

3

Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases.

Biancheri R, Cerone R, Schiaffino MC, Caruso U, Veneselli E, Perrone MV, Rossi A, Gatti R. Biancheri R, et al. Among authors: caruso u. Neuropediatrics. 2001 Feb;32(1):14-22. doi: 10.1055/s-2001-12217. Neuropediatrics. 2001. PMID: 11315197

4

Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.

Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Carnevale F, Cerone R. Schiaffino MC, et al. Among authors: caruso u. J Inherit Metab Dis. 2004;27(1):101-2. doi: 10.1023/b:boli.0000016674.61073.e4. J Inherit Metab Dis. 2004. PMID: 15065571

5

Peroxisomal acyl-CoA-oxidase deficiency: two new cases.

Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Among authors: caruso u. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048

6

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E. Biancheri R, et al. Among authors: caruso u. Epilepsia. 2002 Jun;43(6):616-22. doi: 10.1046/j.1528-1157.2002.24001.x. Epilepsia. 2002. PMID: 12060021 Free article.

7

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: caruso u. Acta Paediatr. 1997 Sep;86(9):1013-5. doi: 10.1111/j.1651-2227.1997.tb15192.x. Acta Paediatr. 1997. PMID: 9343288

8

Fumarate hydratase deficiency.

Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Bonioli E, et al. Among authors: caruso u. J Inherit Metab Dis. 1998 Jun;21(4):435-6. doi: 10.1023/a:1005379330187. J Inherit Metab Dis. 1998. PMID: 9700607 No abstract available.

9

Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapy.

Svahn J, Schiaffino MC, Caruso U, Calvillo M, Minniti G, Dufour C. Svahn J, et al. Among authors: caruso u. J Pediatr Hematol Oncol. 2003 Dec;25(12):965-8. doi: 10.1097/00043426-200312000-00012. J Pediatr Hematol Oncol. 2003. PMID: 14663281

10

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: caruso u. 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.

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