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Molybdenum Cofactor Deficiency in the Neonate: Expanding the Phenotype.
Hierro F, Tomé ML, Grenha J, Santos H, Santos F, Nunes J. Hierro F, et al. Among authors: grenha j. Pediatr Neurol. 2024 Apr;153:113-115. doi: 10.1016/j.pediatrneurol.2024.01.020. Epub 2024 Feb 1. Pediatr Neurol. 2024. PMID: 38367485 No abstract available.
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
Rodrigues F, Grenha J, Ortez C, Nascimento A, Morte B, M-Belinchón M, Armstrong J, Colomer J. Rodrigues F, et al. Among authors: grenha j. BMC Pediatr. 2014 Oct 4;14:252. doi: 10.1186/1471-2431-14-252. BMC Pediatr. 2014. PMID: 25284458 Free PMC article.