Leuzzi V - Search Results

1

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, Yıldız Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H; International Working Group on Neurotransmitter related Disorders (iNTD); Burlina A, Cortès-Saladelafont E, Fernández Ramos JA, García-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanović G, Fung CW. Keller M, et al. Among authors: leuzzi v. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502. doi: 10.1002/jimd.12416. Epub 2021 Aug 2. J Inherit Metab Dis. 2021. PMID: 34245036 Free article.

2

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

Dionisi-Vici C, Hoffmann GF, Leuzzi V, Hoffken H, Bräutigam C, Rizzo C, Steebergen-Spanjers GC, Smeitink JA, Wevers RA. Dionisi-Vici C, et al. Among authors: leuzzi v. J Pediatr. 2000 Apr;136(4):560-2. doi: 10.1016/s0022-3476(00)90027-1. J Pediatr. 2000. PMID: 10753262 Review.

3

Executive function impairment in early-treated PKU subjects with normal mental development.

Leuzzi V, Pansini M, Sechi E, Chiarotti F, Carducci C, Levi G, Antonozzi I. Leuzzi V, et al. J Inherit Metab Dis. 2004;27(2):115-25. doi: 10.1023/B:BOLI.0000028781.94251.1f. J Inherit Metab Dis. 2004. PMID: 15159642

4

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.

Mastrangelo M, Celato A, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Eur J Paediatr Neurol. 2012 Mar;16(2):179-91. doi: 10.1016/j.ejpn.2011.07.015. Epub 2011 Sep 21. Eur J Paediatr Neurol. 2012. PMID: 21940184 Review.

5

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M. Giordano C, et al. Among authors: leuzzi v. J Inherit Metab Dis. 2012 May;35(3):451-8. doi: 10.1007/s10545-011-9408-3. Epub 2011 Oct 22. J Inherit Metab Dis. 2012. PMID: 22020834

6

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Mastrangelo M, Leuzzi V. Mastrangelo M, et al. Among authors: leuzzi v. Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003. Pediatr Neurol. 2012. PMID: 22196487 Review.

7

Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M. Marangi G, et al. Among authors: leuzzi v. Eur J Hum Genet. 2013 Feb;21(2):229-32. doi: 10.1038/ejhg.2012.79. Epub 2012 May 2. Eur J Hum Genet. 2013. PMID: 22549410 Free PMC article.

8

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V. Libernini L, et al. Among authors: leuzzi v. Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22. Neuropediatrics. 2012. PMID: 22618301

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

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

Leuzzi V, Garavaglia B, Manti F, Bertino S, Nardocci N. Leuzzi V, et al. Mov Disord. 2014 Feb;29(2):277-8. doi: 10.1002/mds.25725. Epub 2013 Oct 22. Mov Disord. 2014. PMID: 24151230 No abstract available.

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