Tolve M - Search Results

1

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.

Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V. Carducci C, et al. Among authors: tolve m. Mol Genet Metab. 2015 Aug;115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25. Mol Genet Metab. 2015. PMID: 26123188

2

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.

Celato A, Mitola C, Tolve M, Giannini MT, De Leo S, Carducci C, Carducci C, Leuzzi V. Celato A, et al. Among authors: tolve m. Brain Dev. 2013 Aug;35(7):675-80. doi: 10.1016/j.braindev.2012.10.014. Epub 2012 Nov 22. Brain Dev. 2013. PMID: 23177061

3

Very early pattern of movement disorders in sepiapterin reductase deficiency.

Leuzzi V, Carducci C, Tolve M, Giannini MT, Angeloni A, Carducci C. Leuzzi V, et al. Among authors: tolve m. Neurology. 2013 Dec 10;81(24):2141-2. doi: 10.1212/01.wnl.0000437299.51312.5f. Epub 2013 Nov 8. Neurology. 2013. PMID: 24212389 No abstract available.

4

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Among authors: tolve m. Mol Genet Metab. 2017 Sep;122(1-2):135-142. doi: 10.1016/j.ymgme.2017.08.003. Epub 2017 Aug 12. Mol Genet Metab. 2017. PMID: 28818555

5

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Among authors: tolve m. Data Brief. 2017 Oct 28;15:868-875. doi: 10.1016/j.dib.2017.10.032. eCollection 2017 Dec. Data Brief. 2017. PMID: 29379851 Free PMC article.

6

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].

di Salvo ML, Mastrangelo M, Nogués I, Tolve M, Paiardini A, Carducci C, Mei D, Montomoli M, Tramonti A, Guerrini R, Contestabile R, Leuzzi V. di Salvo ML, et al. Among authors: tolve m. Mol Genet Metab. 2018 Dec;125(4):359. doi: 10.1016/j.ymgme.2018.02.017. Epub 2018 Mar 14. Mol Genet Metab. 2018. PMID: 29548777 No abstract available.

7

PRICKLE1-related early onset epileptic encephalopathy.

Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V. Mastrangelo M, et al. Among authors: tolve m. Am J Med Genet A. 2018 Dec;176(12):2841-2845. doi: 10.1002/ajmg.a.40625. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30345727

8

PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.

Caputi C, Tolve M, Galosi S, Inghilleri M, Carducci C, Angeloni A, Leuzzi V. Caputi C, et al. Among authors: tolve m. Parkinsonism Relat Disord. 2019 Jul;64:342-345. doi: 10.1016/j.parkreldis.2019.03.012. Epub 2019 Apr 1. Parkinsonism Relat Disord. 2019. PMID: 30956058

9

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C. Montioli R, et al. Among authors: tolve m. Mol Genet Metab. 2019 Jun;127(2):132-137. doi: 10.1016/j.ymgme.2019.05.004. Epub 2019 May 10. Mol Genet Metab. 2019. PMID: 31104889

10

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Tolve M, Artiola C, Pasquali A, Giovanniello T, D'Amici S, Angeloni A, Pizzuti A, Carducci C, Leuzzi V, Carducci C. Tolve M, et al. Methods Protoc. 2018 Aug 16;1(3):30. doi: 10.3390/mps1030030. Methods Protoc. 2018. PMID: 31164572 Free PMC article.

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