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Page 1
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Magner M, et al. Among authors: bertini e. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. J Inherit Metab Dis. 2015. PMID: 25326274
Oxidative abnormalities in Menkes disease.
Rizzo C, Bertini E, Piemonte F, Leuzzi V, Sabetta G, Federici G, Luchetti A, Dionisi-Vici C. Rizzo C, et al. Among authors: bertini e. J Inherit Metab Dis. 2000 Jun;23(4):349-51. doi: 10.1023/a:1005675012708. J Inherit Metab Dis. 2000. PMID: 10896291 No abstract available.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: bertini e. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
Glutathione metabolism in cobalamin deficiency type C (cblC).
Pastore A, Martinelli D, Piemonte F, Tozzi G, Boenzi S, Di Giovamberardino G, Petrillo S, Bertini E, Dionisi-Vici C. Pastore A, et al. Among authors: bertini e. J Inherit Metab Dis. 2014 Jan;37(1):125-9. doi: 10.1007/s10545-013-9605-3. Epub 2013 Apr 9. J Inherit Metab Dis. 2014. PMID: 23568438
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Among authors: bertini e. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
Carrozzo R, Torraco A, Fiermonte G, Martinelli D, Di Nottia M, Rizza T, Vozza A, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Pierri CL, Zucano S, Piemonte F, Bertini E, Dionisi-Vici C. Carrozzo R, et al. Among authors: bertini e. Mitochondrion. 2014 Sep;18:49-57. doi: 10.1016/j.mito.2014.09.006. Epub 2014 Sep 22. Mitochondrion. 2014. PMID: 25251739
933 results