hypophosphatasia


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hypophosphatasia

 [hi″po-fos″fah-ta´zhah]
an inborn error of metabolism marked by abnormally low serum alkaline phosphatase activity; it is manifested by rickets in infants and children and by osteomalacia in adults. It is most severe in babies under six months of age.

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă),
An abnormally low content of alkaline phosphatase in the circulating blood.
Synonym(s): hypophosphatasemia

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă)
An abnormally low content of alkaline phosphatase in the circulating blood.

hy·po·phos·pha·ta·si·a

(hī'pō-fos'fă-tā'zē-ă)
An abnormally low content of alkaline phosphatase in circulating blood.
References in periodicals archive ?
Hypophosphatasia: enzyme replacementtherapy brings new opportunities and new challenges.
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Perlman et al., "Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts," The Journal of Clinical Endocrinology & Metabolism, vol.
Balayssac et al., "Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis," Journal of Neurochemistry, vol.
It is indicated for the treatment of perinatal /infantile and juvenile-onset hypophosphatasia. The animal data suggest low risk but it is doubtful that this drug will be used in pregnancy.
Strensiq was approved by the FDA for perinatal-, infantile- and juvenile-onset hypophosphatasia (HPP) in 4Q15.
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
It is usually found isolated, however, it can be associated with some developmental anomalies such as ectodermal dysplasia, hypophosphatasia, unilateral facial hypoplasia, neurofibromatosis, and vascular and epidermal nevi.9
The affected individuals had hypophosphatasia, rather than hyperphosphatasia, (79) being consistent with our proposal that secretion of alkaline phosphatase is dependent upon GPI transamidase.