hypophosphatasia

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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).

Alexion Pharmaceuticals Friedman to Its Board of Directors

hypophosphatasia, pycnodysostosis and osteopetrosis) and these conditions should be kept in mind in the differential diagnosis.

Bilateral Incomplete Atypical Femoral Fracture due to Long-Term Bisphosphonate Use: A Case Report/Uzun Sureli Bifosfonat Kullanimina Bagli Olarak Gelisen Bilateral Inkomplet Atipik Femur Frakturu: Bir Olgu Sunumu

M2 EQUITYBITES-July 11, 2017-Soft Bones Inc awards grant to Vanderbilt University Medical Center researcher for further development studies in hypophosphatasia

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.

Papillon-Lefevre syndrome: case report

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.

Bone Turnover Markers in the Diagnosis and Monitoring of Metabolic Bone Disease

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.

United States : FDA awards 21 grants to stimulate product development for rare diseases

Other factors are previous damages to joints such as osteoarthritis, end-stage kidney disease, hyperparathyroidism, hemochromatosis, hypophosphatasia, hypomagnesemia, aging, and medications including diuretics.

Acute pseudogout arthritis in a patient using diuretics

It is indicated for the treatment of perinatal /infantile and juvenile-onset hypophosphatasia.

A review of 2015 drug approvals

Strensiq was approved by the FDA for perinatal-, infantile- and juvenile-onset hypophosphatasia (HPP) in 4Q15.

Quarterly reports: Harvoni sales drive continued growth for Gilead

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

Displasia cleidocraneal: presentacion de un caso

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.

REGIONAL ODONTODYSPLASIA: AN OVEREVIEW

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.