Dionisi-Vici C - Search Results

1

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H₂S homeostasis.

Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P. Kožich V, et al. Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18. Redox Biol. 2022. PMID: 36306676 Free PMC article.

2

Cobalamin C defect: natural history, pathophysiology, and treatment.

Martinelli D, Deodato F, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2011 Feb;34(1):127-35. doi: 10.1007/s10545-010-9161-z. Epub 2010 Jul 15. J Inherit Metab Dis. 2011. PMID: 20632110 Review.

3

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419

4

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Boenzi S, Rizzo C, Di Ciommo VM, Martinelli D, Goffredo BM, la Marca G, Dionisi-Vici C. Boenzi S, et al. J Pharm Biomed Anal. 2011 Dec 5;56(4):792-8. doi: 10.1016/j.jpba.2011.06.006. Epub 2011 Jun 16. J Pharm Biomed Anal. 2011. PMID: 21742455

5

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Cusmai R, Martinelli D, Moavero R, Dionisi Vici C, Vigevano F, Castana C, Elia M, Bernabei S, Bevivino E. Cusmai R, et al. Eur J Paediatr Neurol. 2012 Sep;16(5):509-13. doi: 10.1016/j.ejpn.2011.12.015. Epub 2012 Jan 18. Eur J Paediatr Neurol. 2012. PMID: 22261077

6

Creatine metabolism in urea cycle defects.

Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C. Boenzi S, et al. J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644604

7

Glutathione metabolism in cobalamin deficiency type C (cblC).

Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C. Pastore A, et al. J Inherit Metab Dis. 2014 Jan;37(1):125-9. doi: 10.1007/s10545-013-9605-3. Epub 2013 Apr 9. J Inherit Metab Dis. 2014. PMID: 23568438

8

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.

Pastore A, Petrillo S, Tozzi G, Carrozzo R, Martinelli D, Dionisi-Vici C, Di Giovamberardino G, Ceravolo F, Klein MB, Miller G, Enns GM, Bertini E, Piemonte F. Pastore A, et al. Mol Genet Metab. 2013 Jun;109(2):208-14. doi: 10.1016/j.ymgme.2013.03.011. Epub 2013 Mar 24. Mol Genet Metab. 2013. PMID: 23583222

9

Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.

Dionisi-Vici C, Martinelli D, Ceravolo F, Boenzi S, Pastore A. Dionisi-Vici C, et al. Mol Genet Metab. 2013 Aug;109(4):329-30. doi: 10.1016/j.ymgme.2013.05.013. Epub 2013 May 29. Mol Genet Metab. 2013. PMID: 23764205 No abstract available.

10

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

Martinelli D, Dionisi-Vici C. Martinelli D, et al. Ann N Y Acad Sci. 2014 May;1314:55-63. doi: 10.1111/nyas.12426. Epub 2014 Apr 22. Ann N Y Acad Sci. 2014. PMID: 24754424

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