Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rina Iwata"'
Autor:
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)
Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnorma
Externí odkaz:
https://doaj.org/article/b4113a2a404e4759b2900d95661efd41
Autor:
Viktoriia Sofronova, Rina Iwata, Takuya Moriya, Kiunniai Loskutova, Elizaveta Gurinova, Mairanush Chernova, Anastasia Timofeeva, Anna Shvedova, Filipp Vasilev, Saina Novgorodova, Seigo Terawaki, Takahito Moriwaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5851
Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236f97acd6f0bc4bdda412881531e7a5
https://doi.org/10.3390/ijms23105851
https://doi.org/10.3390/ijms23105851