Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tateo Koori"'
Autor:
Tateo Koori, Kiyoharu Inoue, Megumu Ogawa, Michio Hirano, Ichizo Nishino, Kazuma Sugie, Ikuya Nonaka, Ayaka Yamamoto
Publikováno v:
Neuromuscular disorders : NMD. 13(9)
Danon disease, primary lysosome-associated membrane protein-2 (LAMP-2) deficiency, is histologically characterized by unusual vacuoles bound by membranes with sarcolemmal features in skeletal muscle. We studied skeletal muscle specimens from a male p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a0769df2989185acf666672d7f0380
https://pubmed.ncbi.nlm.nih.gov/14561493
https://pubmed.ncbi.nlm.nih.gov/14561493
Autor:
Shin J. Oh, Tateo Koori, Sadatomo Shimojo, Sara Shanske, Michio Hirano, Salvatore DiMauro, Ichizo Nishino, Eduardo Bonilla, Kurenai Tanji, Yasutoshi Koga, Nobuyuki Murakami, Ayaka Yamamoto, Ikuya Nonaka, Carolyn M. Sue, Takeshi Yamada, Marina Mora, Jin Fu, Edward Byrne, Jack E. Riggs
Publikováno v:
Nature. 406(6798)
"Lysosomal glycogen storage disease with normal acid maltase" which was originally described by Danon et al., is characterized clinically by cardiomyopathy, myopathy and variable mental retardation. The pathological hallmark of the disease is intracy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38ea39a6b0a4b48790c7416cf3161f7d
https://pubmed.ncbi.nlm.nih.gov/10972294
https://pubmed.ncbi.nlm.nih.gov/10972294