Adult hypophosphatasia is an autosomal recessive or dominant disorder caused by mutations of the ALPL gene. Symptoms include rickets and a propensity to bone fractures.
For therapy Strensiq® (asfotase alfa) is available.
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| 1. |
Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
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| 2. |
None (1957) Hypophosphatasia.
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| 3. |
Unger S et al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.
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| 4. |
Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
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| 5. |
Pauli RM et al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.
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| 6. |
Weinstein RS et al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.
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| 7. |
Whyte MP et al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts.
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| 8. |
Whyte MP et al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred.
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| 9. |
Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.
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| 10. |
Eade AW et al. (1981) Pyrophosphate arthropathy in hypophosphatasia.
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| 11. |
Jardon OM et al. (1970) Hypophosphatasia in an adult.
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| 12. |
Danovitch SH et al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia.
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| 13. |
Whyte MP et al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.
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| 14. |
Whyte MP et al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred.
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| 15. |
Whyte MP et al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature.
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| 16. |
Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide.
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| 17. |
Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
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| 18. |
Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia.
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| 19. |
Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia.
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| 20. |
Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families.
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| 21. |
Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.
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| 22. |
OMIM.ORG article Omim 146300
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| 23. |
Orphanet article Orphanet ID 247676
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