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Adult hypophosphatasia (disorder)
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline… Expand
2019
2019
BackgroundHypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL… Expand
Review
2018
Review
2018
Background Hypophosphatasia is a rare heritable metabolic disorder. Its prevalence is estimated at 1: 1 00 000. Its diagnosis can… Expand
2013
2013
Hypophosphatasia is an inherited skeletal disorder due to mutations within the ALPL gene that encodes the “tissue-nonspecific… Expand
2011
2011
Hypophosphatasia (HPP) is a rare inborn disease caused by different mutations in the tissue-nonspecific alkaline phosphatase… Expand
2000
2000
Tissue-non-specific alkaline phosphatase (TNSALP) with an Arg(54)-->Cys (R54C) or an Asp(277)-->Ala (D277A)substitution was found… Expand
Highly Cited
1997
Highly Cited
1997
Hypophosphatasia, a heritable disease characterized by deficient activity of the tissue nonspecific isoenzyme of alkaline… Expand
1989
1989
The suspicion of congenital hypophosphatasia is frequently raised byte premature falling out of milk teeth. The diagnosis is… Expand
1975
1975
SummaryThe diagnostic characteristics of the early infantile form of hypophosphatasia tarda are demonstrated in a case of a first… Expand
