Enzyme replacement therapy for lysosomal diseases: Lessons from 20 years of experience and remaining challenges

Annual Review of Genomics and Human Genetics

Volumn 13, Issue , 2012, Pages 307-335

  Desnick, R J ^a   Schuchman, E H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

animal models; biomarkers; blood brain barrier; clinical trials; receptor mediated; substrate clearance

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALGLUCERASE; ALPHA GALACTOSIDASE; ALPHA MANNOSIDASE; BORTEZOMIB; GALSULFASE; GLUCOSYLCERAMIDASE; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; IMIGLUCERASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; LAMAZYM; LARONIDASE; LEVO IDURONIDASE; METHOTREXATE; N ACETYLGALACTOSAMINE 4 SULFATASE; PLACEBO; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; RITUXIMAB; SPHINGOMYELIN PHOSPHODIESTERASE; TALIGLUCERASE ALFA; UNCLASSIFIED DRUG; VELAGLUCERASE ALFA;

BLOOD BRAIN BARRIER; CELL TRANSPORT; COMPETITIVE INHIBITION; DOSE RESPONSE; DRUG CLEARANCE; DRUG DISTRIBUTION; DRUG EFFICACY; DRUG TOLERABILITY; EARLY DIAGNOSIS; EARLY INTERVENTION; ENZYME ACTIVITY; ENZYME REPLACEMENT; ENZYME SUBSTRATE; FABRY DISEASE; GASTROINTESTINAL SYMPTOM; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HEALTH CARE COST; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; LYSOSOME STORAGE DISEASE; MANNOSIDOSIS; MUCOPOLYSACCHARIDOSIS; NEWBORN SCREENING; NIEMANN PICK DISEASE; PLASMA HALF LIFE; PROTEIN DEGRADATION; PROTEIN TARGETING; REVIEW; SANDHOFF DISEASE; THERAPY EFFECT; TREATMENT RESPONSE; VASCULAR ENDOTHELIUM;

ANIMALS; CLINICAL TRIALS AS TOPIC; ENZYME REPLACEMENT THERAPY; GAUCHER DISEASE; HUMANS; LYSOSOMAL STORAGE DISEASES; RECOMBINANT PROTEINS; TISSUE DISTRIBUTION;

ANIMALIA; MURINAE;

EID: 84872479464     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-090711-163739     Document Type: Review

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