Hypophosphatasia

id: hypophosphatasia-173-15917429
title: Hypophosphatasia
text: Hypophosphatasia is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic f
brand slug: wiki
category slug: encyclopedia
description: Medical condition
original url: https://en.wikipedia.org/wiki/Hypophosphatasia
date created: 2005-09-01T11:19:06Z
date modified: 2024-09-02T13:02:30Z
main entity: {"identifier":"Q1313510","url":"https://www.wikidata.org/entity/Q1313510"}
image: {"content_url":"https://upload.wikimedia.org/wikipedia/commons/0/04/1ALK.png","width":1440,"height":1080}
fields total: 13
integrity: 16

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