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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: mastrangelo 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
Inborn errors of creatine metabolism and epilepsy.
Leuzzi V, Mastrangelo M, Battini R, Cioni G. Leuzzi V, et al. Among authors: mastrangelo m. Epilepsia. 2013 Feb;54(2):217-27. doi: 10.1111/epi.12020. Epub 2012 Nov 13. Epilepsia. 2013. PMID: 23157605 Free article. Review.
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C. Leuzzi V, et al. Among authors: mastrangelo m. JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1. JIMD Rep. 2015. PMID: 24788355 Free PMC article.
469 results