摘要:
Provided are compositions comprising a recombinant phenylalanine ammonia-lyase (PAL) derived from the bacterial species Anabaena variabilis, Nostoc punctiforme, Streptomyces maritimus, Streptomyces verticillatus, Soragium cellulosum, Nostoc tobacum, or Pseudomonas putida, or a biologically active fragment, mutant, variant or analog thereof, and a pharmaceutically acceptable carrier. Further provided are such compositions of recombinant bacterial PAL and biologically active fragments, mutants, variants or analogs thereof for use in treating phenylketonuria hyperphenylalaninemia.
摘要:
The invention provides adeno-associated virus (AAV) Factor VIII (FVIII)-encoding/expressing vectors and virus, including AAV FVIII vectors with high expression activity and AAV FVIII vectors that express full-length or truncated functional FVIII protein. The invention also relates to methods of making the herein described AAV FVIII vectors, recombinant AAV FVIII virus particles comprising or expressing such vectors, associated pharmaceutical formulations comprising the same and therapeutic uses thereof.
摘要:
Provided herein are methods of diagnosing or monitoring the treatment of abnormal glycan accumulation or a disorder associated with abnormal glycan accumulation.
摘要:
Described herein are compounds of Formula I, methods of making such compounds, pharmaceutical compositions and medicaments containing such compounds, and methods of using such compounds to treat or prevent diseases or conditions associated with the enzyme glucosylceramide synthase (GCS).
摘要:
This invention provides compositions of active highly phosphorylated lysosomal sulfatase enzymes, their pharmaceutical compositions, methods of producing and purifying such lysosomal sulfatase enzymes and compositions and their use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the lysosomal sulfatase enzyme.