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Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Authors
  • Taketani, Takeshi1
  • Onigata, Kazumichi
  • Kobayashi, Hironori
  • Mushimoto, Yuichi
  • Fukuda, Seiji
  • Yamaguchi, Seiji
  • 1 Division of Blood Transfusion, Shimane University Hospital, , Shimane, Japan. , (Japan)
Type
Published Article
Journal
Archives of Disease in Childhood
Publisher
BMJ
Publication Date
Mar 01, 2014
Volume
99
Issue
3
Pages
211–215
Identifiers
DOI: 10.1136/archdischild-2013-305037
PMID: 24276437
Source
Medline
Keywords
License
Unknown

Abstract

The most frequent clinical type was the PLH type with prognosis related to respiratory failure, biochemical/radiological changes and ALPL mutations. Cerebral manifestations frequently occurred. Genotype-phenotype correlations were associated with specific outcomes in the PLH type, whereas different clinical features were associated with the same genotype in the non-lethal type.

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