Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations i
โฆ LIBER โฆ
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene
โ Scribed by Hiroshi Mochizuki; Mariko Saito; Toshimi Michigami; Hirofumi Ohashi; Naoya Koda; Shuichi Yamaguchi; Keiichi Ozono
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 125 KB
- Volume
- 159
- Category
- Article
- ISSN
- 0340-6997
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Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a s