Literature DB >> 21307860

Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.

Keiichi Ozono1, Toshimi Michigami.   

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Year:  2011        PMID： 21307860     DOI： 10.1038/jhg.2011.6

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  8 in total

Review 1.  Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Authors:  Michael P Whyte
Journal:  Nat Rev Endocrinol       Date:  2016-02-19       Impact factor: 43.330

Review 2.  Dental manifestation and management of hypophosphatasia.

Authors:  Rena Okawa; Kazuhiko Nakano
Journal:  Jpn Dent Sci Rev       Date:  2022-07-02

Review 3.  Update on the management of hypophosphatasia.

Authors:  V Choida; J S Bubbear
Journal:  Ther Adv Musculoskelet Dis       Date:  2019-08-01       Impact factor: 5.346

4.  Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.

Authors:  Rena Okawa; Kazuma Kokomoto; Taichi Kitaoka; Takuo Kubota; Atsushi Watanabe; Takeshi Taketani; Toshimi Michigami; Keiichi Ozono; Kazuhiko Nakano
Journal:  PLoS One       Date:  2019-10-10       Impact factor: 3.240

Review 5.  Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.

Authors:  Xiaojian Mao; Sichi Liu; Yunting Lin; Zhen Chen; Yongxian Shao; Qiaoli Yu; Haiying Liu; Zhikun Lu; Huiyin Sheng; Xinshuo Lu; Yonglan Huang; Li Liu; Chunhua Zeng
Journal:  BMC Pediatr       Date:  2019-11-25       Impact factor: 2.125

6.  Clinical Practice Guidelines for Hypophosphatasia.

Authors:  Toshimi Michigami; Yasuhisa Ohata; Makoto Fujiwara; Hiroshi Mochizuki; Masanori Adachi; Taichi Kitaoka; Takuo Kubota; Hideaki Sawai; Noriyuki Namba; Kosei Hasegawa; Ikuma Fujiwara; Keiichi Ozono
Journal:  Clin Pediatr Endocrinol       Date:  2020-01-09

7.  Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations.

Authors:  Hiroshi Kitoh; Masako Izawa; Hiroshi Kaneko; Akiko Kitamura; Saori Matsuyama; Kohji Kato; Tomoo Ogi
Journal:  Bone Rep       Date:  2022-10-04

8.  Prenatal enzyme replacement therapy for Akp2 -/- mice with lethal hypophosphatasia.

Authors:  Akihiro Hasegawa; Aki Nakamura-Takahashi; Masataka Kasahara; Nana Saso; Sonoko Narisawa; José Luis Millán; Osamu Samura; Haruhiko Sago; Aikou Okamoto; Akihiro Umezawa
Journal:  Regen Ther       Date:  2021-07-05       Impact factor: 3.419
  8 in total

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