Significats de hypophosphatasia en anglès

The patient is unique, with respect to a discrepancy between onset and clinical severity in hypophosphatasia.

In contrast, we describe a male neonatal patient with hypophosphatasia who had no respiratory problems and survived.

With persistently decreased levels of alkaline phosphatase, upon suspicion of hypophosphatasia, plain radiography detected changes suggestive of rickets.

We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency.

The onset and clinical severity are usually correlated in hypophosphatasia; patients with perinatal hypophosphatasia die approximately at the time of birth.

We describe the clinical and biochemical findings as well as the molecular analysis of a Korean boy with infantile hypophosphatasia and present a literature review.

Hypophosphatasia is associated with a defect of the tissue-non-specific alkaline phosphatase gene.

Hypophosphatasia is a genetic disease for which there are currently no approved treatments.

Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity.