Leuzzi V - Search Results

1

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect.

Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G. Chilosi A, et al. Among authors: leuzzi v. Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821. Neurocase. 2008. PMID: 18569740

2

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. Among authors: leuzzi v. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043. J Pediatr. 2006. PMID: 16769397

3

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

Battini R, Chilosi A, Mei D, Casarano M, Alessandrì MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. Among authors: leuzzi v. Am J Med Genet A. 2007 Aug 1;143A(15):1771-4. doi: 10.1002/ajmg.a.31827. Am J Med Genet A. 2007. PMID: 17603797

4

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

Leuzzi V, Alessandrì MG, Casarano M, Battini R, Cioni G. Leuzzi V, et al. Anal Biochem. 2008 Apr 1;375(1):153-5. doi: 10.1016/j.ab.2008.01.018. Epub 2008 Jan 18. Anal Biochem. 2008. PMID: 18258176

5

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

Chilosi A, Casarano M, Comparini A, Battaglia FM, Mancardi MM, Schiaffino C, Tosetti M, Leuzzi V, Battini R, Cioni G. Chilosi A, et al. Among authors: leuzzi v. Orphanet J Rare Dis. 2012 Jun 19;7:43. doi: 10.1186/1750-1172-7-43. Orphanet J Rare Dis. 2012. PMID: 22713831 Free PMC article.

6

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

Battini R, Chilosi AM, Casarano M, Moro F, Comparini A, Alessandrì MG, Leuzzi V, Tosetti M, Cioni G. Battini R, et al. Among authors: leuzzi v. Mol Genet Metab. 2011 Feb;102(2):153-6. doi: 10.1016/j.ymgme.2010.11.005. Epub 2010 Nov 13. Mol Genet Metab. 2011. PMID: 21144783

7

Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.

Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandri' MG, Carducci C, Antonozzi I, Cioni G. Bianchi MC, et al. Among authors: leuzzi v. AJNR Am J Neuroradiol. 2007 Mar;28(3):548-54. AJNR Am J Neuroradiol. 2007. PMID: 17353334 Free PMC article. Clinical Trial.

8

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

Battini R, Leuzzi V, Carducci C, Tosetti M, Bianchi MC, Item CB, Stöckler-Ipsiroglu S, Cioni G. Battini R, et al. Among authors: leuzzi v. Mol Genet Metab. 2002 Dec;77(4):326-31. doi: 10.1016/s1096-7192(02)00175-0. Mol Genet Metab. 2002. PMID: 12468279

9

Inborn errors of creatine metabolism and epilepsy.

Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Epilepsia. 2013. PMID: 23157605 Free article. Review.

10

A novel mouse model of creatine transporter deficiency.

Baroncelli L, Alessandrì MG, Tola J, Putignano E, Migliore M, Amendola E, Gross C, Leuzzi V, Cioni G, Pizzorusso T. Baroncelli L, et al. Among authors: leuzzi v. F1000Res. 2014 Sep 29;3:228. doi: 10.12688/f1000research.5369.1. eCollection 2014. F1000Res. 2014. PMID: 25485098 Free PMC article.

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