Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
نویسندگان
چکیده
منابع مشابه
Enzyme-replacement therapy in life-threatening hypophosphatasia.
BACKGROUND Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease. There is no approved medical therapy. ENB-...
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Hypophosphatasia (HPP) is a rare, potentially life-threatening disease characterised by hypomineralisation of bones and teeth. The fundamental defect is reduced functional activity of the enzyme tissue-nonspecific alkaline phosphatase (usually just termed alkaline phosphatase [ALP] in clinical practice). Homozygous or compound heterozygous mutations in the ALPL gene result in the most severe ph...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2012
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa1106173