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A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature.
Oyachi M, Harada D, Sakamoto N, Ueyama K, Kondo K, Kishimoto K, Izui M, Nagamatsu Y, Kashiwagi H, Yamamuro M, Tamura M, Kikuchi S, Akiyama T, Michigami T, Seino Y, Namba N. Oyachi M, et al. Among authors: namba n. Clin Pediatr Endocrinol. 2018;27(3):179-186. doi: 10.1297/cpe.27.179. Epub 2018 Jul 31. Clin Pediatr Endocrinol. 2018. PMID: 30083035 Free PMC article.
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.
Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, Kubota T, Hirai H, Higuchi C, Tsumaki N, Yoshikawa H, Sakai N, Michigami T, Ozono K. Miura K, et al. Among authors: namba n. PLoS One. 2012;7(8):e42180. doi: 10.1371/journal.pone.0042180. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22870295 Free PMC article. Clinical Trial.
Pediatric aspects of skeletal dysplasia.
Ozono K, Namba N, Kubota T, Kitaoka T, Miura K, Ohata Y, Fujiwara M, Miyoshi Y, Michigami T. Ozono K, et al. Among authors: namba n. Pediatr Endocrinol Rev. 2012 Oct;10 Suppl 1:35-43. Pediatr Endocrinol Rev. 2012. PMID: 23330244 Review.
146 results