Enzyme replacement therapy on hypophosphatasia mouse model
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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Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a functional deficiency of arylsulfatase A (ASA). Previous studies in ASA-knockout mice suggested enzyme replacement therapy (ERT) to be a promising treatment option. The mild phenotype of ASA-knockout mice did, however, not allow to examine therapeutic responses of the severe neurological symptoms that dominate MLD. We...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2013
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-013-9646-7