Battini R - Search Results

1

Pre-symptomatic treatment of creatine biosynthesis defects.

Schulze A, Battini R. Schulze A, et al. Among authors: battini r. Subcell Biochem. 2007;46:167-81. doi: 10.1007/978-1-4020-6486-9_9. Subcell Biochem. 2007. PMID: 18652077 Review.

2

Inborn errors of creatine metabolism and epilepsy.

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

3

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. Among authors: battini r. 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

4

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Stockler-Ipsiroglu S, et al. Among authors: battini r. Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17. Mol Genet Metab. 2015. PMID: 26490222 Free article.

5

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. Mol Genet Metab. 2002 Dec;77(4):326-31. doi: 10.1016/s1096-7192(02)00175-0. Mol Genet Metab. 2002. PMID: 12468279

6

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.

Carducci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, Battini R, Antonozzi I. Carducci C, et al. Among authors: battini r. Clin Chim Acta. 2006 Feb;364(1-2):180-7. doi: 10.1016/j.cca.2005.06.016. Epub 2005 Sep 28. Clin Chim Acta. 2006. PMID: 16197934

7

Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.

Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I. Carducci C, et al. Among authors: battini r. Clin Chem. 2002 Oct;48(10):1772-8. Clin Chem. 2002. PMID: 12324495

8

Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.

Alessandrì MG, Strigini F, Cioni G, Battini R. Alessandrì MG, et al. Among authors: battini r. BMC Pregnancy Childbirth. 2020 Sep 3;20(1):506. doi: 10.1186/s12884-020-03192-4. BMC Pregnancy Childbirth. 2020. PMID: 32883247 Free PMC article.

9

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: battini r. Neurocase. 2008;14(2):151-61. doi: 10.1080/13554790802060821. Neurocase. 2008. PMID: 18569740

10

Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency.

Cacciante F, Gennaro M, Sagona G, Mazziotti R, Lupori L, Cerri E, Putignano E, Butt M, Do MT, McKew JC, Alessandrì MG, Battini R, Cioni G, Pizzorusso T, Baroncelli L. Cacciante F, et al. Among authors: battini r. Sci Rep. 2020 Oct 27;10(1):18361. doi: 10.1038/s41598-020-75436-4. Sci Rep. 2020. PMID: 33110151 Free PMC article.

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