http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2005108607-A1

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classificationCPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-48
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filingDate 2005-05-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_59a7d964dc6ec3d38629259bda62a353
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_2ddf8ec1c138c774cb11fec0b6e1cf36
publicationDate 2005-11-17-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2005108607-A1
titleOfInvention Compositions and methods for treating disorders associated with abnormal phosphate metabolism
abstract The present invention uncovers that mutations in GALNT3 gene encoding UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T3) cause familial tumoral calcinosis (FTC). Methods and pharmaceutical compositions useful for treating disorders associated with abnormal phosphate metabolism are provided. Specifically, inducers of GalNAc-T3 can be used to treat hyperphosphatemia related disorders such as FTC, and on the other hand, inhibitors of GalNAc-T3 can be used to treat disorders associated with hypophosphatemia, such as hypophosphatemic rickets. The present invention further provides methods and kits for diagnosing familial tumoral calcinosis as well as for identifying agents suitable for treating disorders associated with abnormal phosphate metabolism.
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-110378371-A
priorityDate 2004-05-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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