Infantile Hypophosphatasie

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None (1948) Hypophosphatasia; a new developmental anomaly.

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Chodirker BN et al. (1990) Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.

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Weiss MJ et al. (1989) Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

Warren RC et al. (1985) First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase.

Chodirker BN et al. (1987) Infantile hypophosphatasia--linkage with the RH locus.

Whyte MP et al. (1986) Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase.

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None (1985) Inheritance of hypophosphatasia.

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Eisenberg E et al. () Hypophosphatasia in an adult. A case report.

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BETHUNE JE et al. (1960) Hypophosphatasia in the adult.

Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

Stevenson DA et al. (2008) Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Weiss MJ et al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.

Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

Unger S et al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.

None (1957) Hypophosphatasia.

Scriver CR et al. (1969) Pseudohypophosphatasia.

None () Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case.

Méhes K et al. (1972) Hypophosphatasia: screening and family investigations in an endogamous Hungarian village.

Warshaw JB et al. (1971) Serum alkaline phosphatase in hypophosphatasia.

Whyte MP et al. (1984) Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients.

Eastman JR et al. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.

Albeggiani A et al. (1982) Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years.

Wolff C et al. (1982) Hypophosphatasia congenita letalis.

Whyte MP et al. (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease.

Eastman J et al. (1982) Lethal and mild hypophosphatasia in half-sibs.

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Vandevijver N et al. (1998) Lethal hypophosphatasia, spur type: case report and fetopathological study.

RATHBUN JC et al. (1961) Hypophosphatasia: a genetic study.

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