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.
· Modern Rheumatology Case Rep... · 0 citations