Menkes disease complicated by concurrent ACY1 deficiency: A case report

Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound heterozygous variant in the ACY1 gene, characterized by incr...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017521/
https://www.ncbi.nlm.nih.gov/pubmed/36936426
http://dx.doi.org/10.3389/fgene.2023.1077625

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