Early clinical signs and treatment of Menkes disease

Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper injections during the neonatal period, before...

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Detalles Bibliográficos
Autores principales: Fujisawa, Chie, Kodama, Hiroko, Sato, Yasuhiro, Mimaki, Masakazu, Yagi, Mariko, Awano, Hiroyuki, Matsuo, Muneaki, Shintaku, Haruo, Yoshida, Sayaka, Takayanagi, Masaki, Kubota, Mitsuru, Takahashi, Akihito, Akasaka, Yoshikiyo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861833/
https://www.ncbi.nlm.nih.gov/pubmed/35242581
http://dx.doi.org/10.1016/j.ymgmr.2022.100849

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