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The Defect in the Hurler and Scheie Syndromes: Deficiency of α-L-Iduronidase

Skin fibroblasts cultured from patients affected with the Hurler or Scheie syndromes (mucopoly-saccharidoses I or V, respectively) have a functional deficiency of a protein required for catabolism of sulfated mucopolysaccharide that has been designated the “Hurler corrective factor.” We now show Hur...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Bach, Gideon, Friedman, Robert, Weissmann, Bernard, Neufeld, Elizabeth F.
Format: Artigo
Langue:Inglês
Publié: 1972
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC426865/
https://ncbi.nlm.nih.gov/pubmed/4262258
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