Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans&...

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Detalles Bibliográficos
Autores principales: Suzuki, Akira, Nagasaka, Hironori, Ochi, Yasuhiro, Kobayashi, Kazuhiro, Nakamura, Hiroshi, Nakatani, Daisaku, Yamaguchi, Satoshi, Yamaki, Shinobu, Wada, Atsushi, Shirata, Yoshihisa, Hui, Shu-Ping, Toda, Tatsushi, Kuroda, Hiroshi, Chiba, Hitoshi, Hirano, Ken-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121313/
https://www.ncbi.nlm.nih.gov/pubmed/27896096
http://dx.doi.org/10.1016/j.ymgmr.2014.05.001

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