Zobrazeno 1 - 10
of 684
pro vyhledávání: '"Attenuated MPS"'
Autor:
Ghosh, Arunabha, Giugliani, Roberto, Clarke, Lorne A., Muschol, Nicole M., Jones, Simon A., Batista, Julie L., Flores, Ana Lorena, Wilson, Kathryn, Muenzer, Joseph
Publikováno v:
In Molecular Genetics and Metabolism February 2024 141(2)
Autor:
Shapiro, Elsa G., Rudser, Kyle, Ahmed, Alia, Steiner, Robert D., Delaney, Kathleen A., Yund, Brianna, King, Kelly, Kunin-Batson, Alicia, Eisengart, Julie, Whitley, Chester B.
Publikováno v:
In Molecular Genetics and Metabolism Reports June 2016 7:32-39
Autor:
Yasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, Tetsumin So, Motomichi Kosuga, Kumiko Yanagi, Tadashi Kaname, Takanori Yamagata, Hitoshi Sakuraba, Torayuki Okuyama
Publikováno v:
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://doaj.org/article/7b0c46a5ad294be7be54c3de91a62abf
Akademický článek
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Publikováno v:
In Molecular Genetics and Metabolism May 2010 100(1):20-23
Autor:
Elsa G. Shapiro, Kyle Rudser, Alia Ahmed, Robert D. Steiner, Kathleen A. Delaney, Brianna Yund, Kelly King, Alicia Kunin-Batson, Julie Eisengart, Chester B. Whitley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 32-39 (2016)
Objectives: The behavioral, adaptive and quality of life characteristics of attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the attenuated phenotype may assist in helping achieve better
Externí odkaz:
https://doaj.org/article/b4310bed8f48446a84c4585451b2d6ed
Autor:
Yohei Sato, Masako Fujiwara, Hiroshi Kobayashi, Michio Yoshitake, Kazuhiro Hashimoto, Yuji Oto, Hiroyuki Ida
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 94-97 (2015)
Mucopolysaccharidosis (MPS) is an inherited metabolic disease caused by deficiency of the enzymes needed for glycosaminoglycan (GAG) degradation. MPS type I is caused by the deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified int
Externí odkaz:
https://doaj.org/article/06a94245389e4a3d9ab023c9ecebdcc5
Publikováno v:
Egyptian Journal of Pediatrics. 37:135-143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fb49da756c3f7e6167f67a4ffaf2b69
https://doi.org/10.12816/0055803
https://doi.org/10.12816/0055803
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)
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
http://europepmc.org/articles/PMC7734304
Autor:
Fukuhara, Yasuyuki, Miura, Ai, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Okuyama, Torayuki
Publikováno v:
In Molecular Genetics and Metabolism February 2022 135(2):S45-S45