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Diagnostic challenge of the newborn patients with heritable protein C deficiency

OBJECTIVE: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan. STUDY DESIGN: We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied n...

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Detalles Bibliográficos
Autores principales: Ichiyama, Masako, Inoue, Hirosuke, Ochiai, Masayuki, Ishimura, Masataka, Shiraishi, Akira, Fujiyoshi, Junko, Yamashita, Hironori, Sato, Kazuo, Matsumoto, Shinya, Hotta, Taeko, Uchiumi, Takeshi, Kang, Dongchon, Ohga, Shouichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760599/
https://www.ncbi.nlm.nih.gov/pubmed/30353081
http://dx.doi.org/10.1038/s41372-018-0262-0