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Adult hypophosphatasia (disorder)

Known as: HYPOPHOSPHATASIA, ADULT, HYPOPHOSPHATASIA, MILD 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal dominant inheritanceAutosomal recessive inheritance

Broader (2)

HypophosphatasiaPhosphorus Metabolism Disorders

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease
Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline… 
2019
2019
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
BackgroundHypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL… 
Review
2019
Review
2019
MON-495 Hypophosphatasia: A Rare Cause of Osteoporosis in a Young Adult Male
Abstract Introduction: Secondary osteoporosis is due to an identifiable cause of osteoporosis. Hypophosphatasia is a rare cause… 
2013
2013
Hypophosphatasia: The Disease in Adults
Hypophosphatasia is an inherited skeletal disorder due to mutations within the ALPL gene that encodes the “tissue-nonspecific… 
2011
2011
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.
2000
2000
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated…
Tissue-non-specific alkaline phosphatase (TNSALP) with an Arg(54)-->Cys (R54C) or an Asp(277)-->Ala (D277A)substitution was found… 
1989
1989
Congenitalis hypophosphatasia, mint a korai tejfog-vesztés lehetséges kóroka.
The suspicion of congenital hypophosphatasia is frequently raised byte premature falling out of milk teeth. The diagnosis is… 
1982
1982
hypophosphatasia syndrome〔邦文〕 (症候群1982--概念の変遷とその今日的意義--奇形症候群)
1975
1975
The diagnosis of the early infantile form of hypophosphatasia tarda
SummaryThe diagnostic characteristics of the early infantile form of hypophosphatasia tarda are demonstrated in a case of a first… 
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