Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy

Aceruloplasminemia is an autosomal recessive inherited disorder caused by ceruloplasmin gene mutations. The loss of ferroxidase activity of ceruloplasmin due to gene mutations causes a disturbance in cellular iron transport. We herein describe a patient with aceruloplasminemia, who presented with di...

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Detalles Bibliográficos
Autores principales: Watanabe, Maki, Ohyama, Ken, Suzuki, Masashi, Nosaki, Yasunobu, Hara, Takashi, Iwai, Katsushige, Kono, Satoshi, Miyajima, Hiroaki, Mokuno, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191604/
https://www.ncbi.nlm.nih.gov/pubmed/29709961
http://dx.doi.org/10.2169/internalmedicine.9855-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191604/
https://www.ncbi.nlm.nih.gov/pubmed/29709961
http://dx.doi.org/10.2169/internalmedicine.9855-17

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