A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase

Autor: Motomichi Kosuga, Kumiko Yanagi, Yasuyuki Fukuhara, Torayuki Okuyama, Narutoshi Yamazaki, Ai Miura, Takanori Yamagata, Tadashi Kaname, Hitoshi Sakuraba, Tetsumin So

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100692-(2020)

We previously showed that the genotype-phenotype correlation in MPS II is well-conserved in Japan (Kosuga et al., 2016). Almost all of our patients with attenuated MPS II have missense variants, which is expected to result in residual activity of idu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ba4e524d1be60fa0f19975997cd35e
http://europepmc.org/articles/PMC7734304

Growth charts for patients with Hunter syndrome

Autor: Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Molecular Genetics and Metabolism Reports

Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356b9c517e4085eb0585bef53140b231
http://www.sciencedirect.com/science/article/pii/S2214426913000037

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

Autor: Fukuhara Y; Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Miura A; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Yamazaki N; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., So T; Division of Critical Care Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Kosuga M; Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan., Yamagata T; Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi-ken 329-0498, Japan., Sakuraba H; Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose-shi, Tokyo 204-8588, Japan., Okuyama T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 10; Vol. 25, pp. 100692. Date of Electronic Publication: 2020 Dec 10 (Print Publication: 2020).