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Page 1
Detection of iron deficiency in children with Down syndrome.
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Hart SJ, et al. Among authors: pastore a. Genet Med. 2020 Feb;22(2):317-325. doi: 10.1038/s41436-019-0637-4. Epub 2019 Aug 16. Genet Med. 2020. PMID: 31417190 Free PMC article.
Response to Zhang et al.
Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS. Hart SJ, et al. Among authors: pastore a. Genet Med. 2020 Mar;22(3):662. doi: 10.1038/s41436-019-0690-z. Epub 2019 Nov 12. Genet Med. 2020. PMID: 31712672 Free article. No abstract available.
Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect.
Dionisi-Vici C, Martinelli D, Ceravolo F, Boenzi S, Pastore A. Dionisi-Vici C, et al. Among authors: pastore a. Mol Genet Metab. 2013 Aug;109(4):329-30. doi: 10.1016/j.ymgme.2013.05.013. Epub 2013 May 29. Mol Genet Metab. 2013. PMID: 23764205 No abstract available.
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. Among authors: pastore a. 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.
1,111 results