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U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Juliá-Palacios N, García-Cazorla Á, Dionisi-Vici C, Kölker S. Opladen T, et al. Orphanet J Rare Dis. 2021 Feb 18;16(1):95. doi: 10.1186/s13023-021-01726-3. Orphanet J Rare Dis. 2021. PMID: 33602304 Free PMC article.
Cobalamin C defect presenting as severe neonatal hyperammonemia.
Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.
Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Bianchi M, et al. Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18. Biochem Biophys Res Commun. 2011. PMID: 22027147 Free PMC article.
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Creatine metabolism in urea cycle defects.
Boenzi S, Pastore A, Martinelli D, Goffredo BM, Boiani A, Rizzo C, Dionisi-Vici C. Boenzi S, et al. J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644604
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.
Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. Martinelli D, et al. Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23010433 Clinical Trial.
332 results