Autosomal Recessive Hypophosphatasia Manifestingin Uterowith Long Bone Deformity but Showing Spontaneous Postnatal Improvement | Zendy

David A. Stevenson | Zendy; John C. Carey | Zendy; Stephen P. Coburn | Zendy; Karen L. Ericson | Zendy; Janice L. B. Byrne | Zendy; Steven Mumm | Zendy; Michael P. Whyte | Zendy

Open Access

Autosomal Recessive Hypophosphatasia Manifestingin Uterowith Long Bone Deformity but Showing Spontaneous Postnatal Improvement

Author(s) -

David A. Stevenson,

John C. Carey,

Stephen P. Coburn,

Karen L. Ericson,

Janice L. B. Byrne,

Steven Mumm,

Michael P. Whyte

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-0318

Subject(s) - hypophosphatasia , in utero , context (archaeology) , alkaline phosphatase , endocrinology , variable expression , skeleton (computer programming) , metabolic bone disease , medicine , fetus , biology , genetics , gene , pregnancy , anatomy , osteoporosis , enzyme , biochemistry , paleontology

Hypophosphatasia (HPP) is a heritable metabolic disorder of the skeleton that includes variable expressivity conditioned by gene dosage effect and the variety of mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene. Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality.

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