Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges
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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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2017
ISSN: 0884-0431
DOI: 10.1002/jbmr.3075