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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. Among authors: martinelli d. 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. Among authors: martinelli d. 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.
Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
Barilli A, Rotoli BM, Visigalli R, Bussolati O, Gazzola GC, Gatti R, Dionisi-Vici C, Martinelli D, Goffredo BM, Font-Llitjós M, Mariani F, Luisetti M, Dall'Asta V. Barilli A, et al. Among authors: martinelli d. Mol Genet Metab. 2012 Apr;105(4):585-9. doi: 10.1016/j.ymgme.2012.01.008. Epub 2012 Jan 17. Mol Genet Metab. 2012. PMID: 22325938
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. Among authors: martinelli d. 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. Among authors: martinelli d. 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
448 results