المؤلفون: Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: case report, Menkes disease, novel ATP7A variant, ACY deficiency, overlapping phenotype, delayed copper therapy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/d1d5fd7869b040fb9901fef9c3fa9711Test

المؤلفون: Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina

المساهمون: A. Mauri, L.A. Saielli, E. Alfei, M. Iascone, D. Marchetti, E. Cattaneo, A. Di Lauro, L. Antonelli, L. Alberti, E. Bonaventura, P. Veggiotti, L. Spaccini, C. Cereda

مصطلحات موضوعية: ACY deficiency, Menkes disease, case report, delayed copper therapy, novel ATP7A variant, overlapping phenotype, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36936426; info:eu-repo/semantics/altIdentifier/wos/WOS:000952606100001; volume:14; firstpage:1; lastpage:7; numberofpages:7; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2434/961129Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150341579

الإتاحة: https://doi.org/10.3389/fgene.2023.1077625Test
https://hdl.handle.net/2434/961129Test