Early clinical signs and treatment of Menkes disease

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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Bibliographic Details
Main Authors: Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka
Format: Article
Language:English
Published: Elsevier 2022-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Menkes disease
Early treatment
Early symptom
Prognosis
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692200009X

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http://www.sciencedirect.com/science/article/pii/S221442692200009X

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