hypophosphatasia


Also found in: Medical, Wikipedia.

hypophosphatasia

[‚hī·pō‚fas·fə′tā·zhə]
(medicine)
Alkaline phosphatase deficiency.
A hereditary metabolic disorder characterized by subnormal amounts of alkaline phosphatase in the tissues.
References in periodicals archive ?
In addition, Alexion has two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare metabolic disorders, hypophosphatasia and lysosomal acid lipase deficiency (LAL-D).
M2 EQUITYBITES-July 11, 2017-Soft Bones Inc awards grant to Vanderbilt University Medical Center researcher for further development studies in hypophosphatasia
The differential diagnoses include Haim-Munk syndrome and hypophosphatasia.
Bone ALP expression is acquired early in the differentiation of osteoblasts from mesenchymal progenitors, and bone ALP itself plays a key role in degrading the natural inhibitor of mineralization pyrophosphate, as evidenced by the potentially severe rickets-like skeletal disease in patients with hypophosphatasia due to mutations in ALPL.
Five of the studies funded by this grants program supported product approvals in 2015 alone, including much needed treatments for neuroblastoma, lymphangioleiomyomatosis, hypoparathyroidism, and hypophosphatasia.
Other factors are previous damages to joints such as osteoarthritis, end-stage kidney disease, hyperparathyroidism, hemochromatosis, hypophosphatasia, hypomagnesemia, aging, and medications including diuretics.
It is indicated for the treatment of perinatal /infantile and juvenile-onset hypophosphatasia.
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.
AMa[euro]Pharma is focused on the preclinical and clinical development of recAP (recombinant Human Alkaline Phosphatase) as a treatment of acute kidney injury, ulcerative colitis, and hypophosphatasia.