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Author

Shigeru Iwata

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Aug 2026

Adult Hypophosphatasia with a Single Heterozygous c.572A>G p.Glu191Gly Mutation in the ALPL gene: Case Report.

Adult-onset hypophosphatasia manifests after age 18, and is characterized by reduced tissue-nonspecific alkaline phosphatase (ALP) activity. This can lead to fractures, pseudo-fractures, osteomalacia, decreased bone density (bone loss), muscle weakness, myalgia, arthralgia, headache, dental symptoms (loss of permanent...

Kota Hyakuna, Shigeru Iwata, Taro Nishikawa et al. · 0 citations

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