NJ Weinreb, J Charrow, HC Andersson, P … - The American journal of medicine, 2002 - Elsevier Among anemic patients, hemoglobin concentration increased to normal or near
normal within 6 to 12 months, with a sustained response through 5 years. In
thrombocytopenic patients with intact spleens, the most rapid response ... Cited by 215 - Related articles - All 8 versions
J Charrow, HC Andersson, P Kaplan, EH … - Archives of Internal Medicine, 2000 - Am Med Assoc Results Most patients were from the United States (45%) and Israel (17%), but
patients are from 38 countries. Most (94%) had type 1 GD, fewer than 1% had type
2, and 5% had type 3. Mutant allele frequency data, available for 45% of ... Cited by 138 - Related articles - BL Direct - All 4 versions
- ►pnas.org M Jeyakumar, TD Butters, M Cortina-Borja, V … - Proceedings of the National Academy of Sciences, 1999 - National Acad Sciences Sandhoff disease is a neurodegenerative disorder resulting from the autosomal
recessive inheritance of mutations in the HEXB gene, which encodes the
β-subunit of β-hexosaminidase. G M2 ganglioside fails to be degraded and ... Cited by 138 - Related articles - BL Direct - All 10 versions
TU Gerngross… - Nature biotechnology, 2004 - ecow.engr.wisc.edu Protein-based therapeutics are emerging as the largest class of new chemical
entities being developed by the drug industry1. Unlike small molecules, which
typically are synthesized by chemical means, most proteins are sufficiently ... Cited by 121 - Related articles - BL Direct - All 8 versions
RJ Desnick - Journal of inherited metabolic disease, 2004 - Springer Summary: Although ¢rst suggested by de Duve in 1964, enzyme replacement therapy
(ERT) for lysosomal storage diseases did not become a reality until the early
1990s when its safety and e¡ectiveness were demonstrated in type 1 Gaucher ... Cited by 109 - Related articles - BL Direct - All 7 versions
JMP Van den Hout, AJJ Reuser, JBC De Klerk, … - Journal of inherited metabolic disease, 2001 - Springer WF ARTS 3, JAM SMEITINK 4 and AT VAN DER PLOEG 1* ... 1 Department of
Pediatrics, Division of Metabolic Diseases, Sophia Children's Hospital,
University Hospital Rotterdam; 2 Department of Clinical Genetics, Erasmus ... Cited by 108 - Related articles - BL Direct - All 5 versions
J Charrow, JA Esplin, TJ Gribble, P Kaplan, … - Archives of Internal Medicine, 1998 - archinte.highwire.org You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Add to CiteULike Add to ... Cited by 88 - Related articles - BL Direct - All 4 versions
- ►albrecht-kossel-institut.de [PDF] TM Cox, JMFG Aerts, G Andria, M Beck, N … - Journal of inherited metabolic disease, 2003 - Springer Page 1. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the
management of type I (non-neuronopathic) Gaucher disease: A position statement ... Cited by 81 - Related articles - BL Direct - All 19 versions
U Andersson, TD Butters, RA Dwek, FM Platt - Biochemical pharmacology, 2000 - Elsevier N-Butyldeoxynojirimycin (NB-DNJ) inhibits the ceramide glucosyltransferase which
catalyses the first step in glycosphingolipid (GSL) biosynthesis. It has the
potential to be used for the treatment of the GSL lysosomal storage ... Cited by 79 - Related articles - BL Direct - All 6 versions
CL Cramer, DL Weissenborn, KK Oishi, EA … - Annals of the New York Academy of Sciences, 1996 - ncbi.nlm.nih.gov Transgenic plants have significant potential in the bioproduction of complex
human therapeutic proteins due to ease of genetic manipulation, lack of
potential contamination with human pathogens, conservation of eukaryotic ... Cited by 74 - Related articles - BL Direct - All 9 versions
