Výsledky vyhledávání - "Anenya J. Ansh"

Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype

Autor: Anenya J. Ansh, Paul R. Stabach, Thomas O. Carpenter, Carlos R. Ferreira, Demetrios Braddock

Publikováno v: The FASEB Journal. 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e9440387b1f9ee4aa23ad063f79d2e03
https://doi.org/10.1096/fasebj.2022.36.s1.r5223

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Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults

Autor: Anenya J. Ansh, Catherine Nester, Christine O'Brien, Paul R. Stabach, Sae‐Il Murtada, Ethan R. Lester, Gus Khursigara, Liz Molloy, Thomas O. Carpenter, Carlos R. Ferreira, Demetrios T. Braddock

Publikováno v: The FASEB Journal. 36

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b31148f73378cc37f47569b8554e40d
https://doi.org/10.1096/fasebj.2022.36.s1.r5311

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Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis

Autor: Hajime Kato, Anenya J Ansh, Ethan R Lester, Yuka Kinoshita, Naoko Hidaka, Yoshitomo Hoshino, Minae Koga, Yuki Taniguchi, Taisuke Uchida, Hideki Yamaguchi, Yo Niida, Masamitsu Nakazato, Masaomi Nangaku, Noriko Makita, Toshinari Takamura, Taku Saito, Demetrios T Braddock, Nobuaki Ito

Publikováno v: J Bone Miner Res

Homozygous ENPP1 mutations are associated with autosomal recessive hypophosphatemic rickets type 2 (ARHR2), severe ossification of the spinal ligaments, and generalized arterial calcification of infancy type 1. There are a limited number of reports o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda0340e30f15f6cb46728b775d5a975
https://pubmed.ncbi.nlm.nih.gov/35340077

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Author response for 'Identification of ENPP1 haploinsufficiency in patients with diffuse idiopathic skeletal hyperostosis and early‐onset osteoporosis'

Autor: null Hajime Kato, null Anenya J. Ansh, null Ethan R. Lester, null Yuka Kinoshita, null Naoko Hidaka, null Yoshitomo Hoshino, null Minae Koga, null Yuki Taniguchi, null Taisuke Uchida, null Hideki Yamaguchi, null Yo Niida, null Masamitsu Nakazato, null Masaomi Nangaku, null Noriko Makita, null Toshinari Takamura, null Taku Saito, null Demetrios T. Braddock, null Nobuaki Ito

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc9cb6bb0f1112e5bd100d485e3db5de
https://doi.org/10.1002/jbmr.4550/v2/response1

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