Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

Abstract Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto-hypophosphatasia, according to the age at first...

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Bibliographic Details
Main Authors: Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Journal of Medical Case Reports
Subjects:
Hypophosphatasia
Alkaline phosphatase
Compound heterozygous mutation
Medical checkup
Osteoporosis
Online Access:http://link.springer.com/article/10.1186/s13256-019-2045-4

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http://link.springer.com/article/10.1186/s13256-019-2045-4

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