Adult hypophosphatasia (disorder)
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Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline… Expand BackgroundHypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL… Expand Background Hypophosphatasia is a rare heritable metabolic disorder. Its prevalence is estimated at 1: 1 00 000. Its diagnosis can… Expand Hypophosphatasia is an inherited skeletal disorder due to mutations within the ALPL gene that encodes the “tissue-nonspecific… Expand Hypophosphatasia (HPP) is a rare inborn disease caused by different mutations in the tissue-nonspecific alkaline phosphatase… Expand Tissue-non-specific alkaline phosphatase (TNSALP) with an Arg(54)-->Cys (R54C) or an Asp(277)-->Ala (D277A)substitution was found… Expand Hypophosphatasia, a heritable disease characterized by deficient activity of the tissue nonspecific isoenzyme of alkaline… Expand The suspicion of congenital hypophosphatasia is frequently raised byte premature falling out of milk teeth. The diagnosis is… Expand SummaryThe diagnostic characteristics of the early infantile form of hypophosphatasia tarda are demonstrated in a case of a first… Expand