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Product

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Center:

NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND

Fiscal Year:

2012

Contact Information:

Product Description:

Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phophatase (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-0040 is a bone-targeted, recombinant human TNSALP that prevents the manifestations of hypophosphatasia in Tnsalp knockout mice.

Keyword(s):

enzyme-replacement therapy, hypophophatasia

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals, Students

Alternative Format:

To Obtain Copies (URL or Email):

[email protected]

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910