Matches in DBpedia 2015-10 for { ?s ?p "Hypophosphatasia is a rare and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise, 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."@en }
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- Hypophosphatasia comment "Hypophosphatasia is a rare and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise, 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.".