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
10.3389/fgene.2023.1077625
Front Genet
2023 Mar 2;14:1077625.
acy deficiency menkes disease case report delayed copper therapy novel atp7a variant overlapping phenotype
CC BY
https://pubmed.ncbi.nlm.nih.gov/36936426/
Case Reports
PMC10017521
36936426
Menkes disease complicated by concurrent ACY1 deficiency: A case report
2023