The α-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1639, Issue 2, 2003, Pages 95-103

  Hein, Leanne K ^b   Hopwood, John J ^b   Clements, Peter R ^b   Brooks, Doug A ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b NONE

Author keywords

L Iduronidase; Catalytic efficiency; Glycoside hydrolase; Hurler syndrome; Lysosomal storage disorder; Mucopolysaccharidosis I; Mutant protein

Indexed keywords

ARGININE; LEVO IDURONIDASE; MUTANT PROTEIN;

ALLELE; ANIMAL CELL; ARTICLE; CATALYSIS; CHINESE HAMSTER; CLINICAL FEATURE; ENZYME ACTIVITY; HUMAN; HURLER SYNDROME; NONHUMAN; OVARY CELL; PRIORITY JOURNAL; SCHEIE SYNDROME; AMINO ACID SUBSTITUTION; ANIMAL; BIOSYNTHESIS; CHO CELL; GENETICS; HAMSTER; METABOLISM; PATHOPHYSIOLOGY;

AMINO ACID SUBSTITUTION; ANIMALS; CHO CELLS; CRICETINAE; HUMANS; IDURONIDASE; MUCOPOLYSACCHARIDOSIS I;

EID: 0642375674     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(03)00129-7     Document Type: Article

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