Article
[Hypophosphatasia].
Klinische Padiatrie - 1 Jan 2000
Beck C, Morbach H, Stenzel M, Schneider P, Collmann H, Girschick G, Girschick H J
Abstract excerpt
Hypophosphatasia (HP) is an inborn error of bone metabolism transmitted predominantly as an autosomal-recessive trait. It is characterized by a reduced activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSAP) and elevated concentrations of its substrates, including pyrophosphates. Clinical symptoms include defective bone mineralisation with bone deformities, fractures and as recently defined...
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