Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte α-L-iduronidase

Archives of Medical Research

Volumn 33, Issue 1, 2002, Pages 20-24

  Mandelli, Jovana ^a,b   Wajner, Alessandro ^a,b   Pires, Ricardo ^b   Giugliani, Roberto ^a,b   Coelho, Janice C ^a,b  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b Porto Alegre General Hospital   (Brazil)

Author keywords

L iduronidase; Heterozygote detection; Leukocytes; Mucopolysaccharidosis type I

Indexed keywords

LEVO IDURONIDASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME KINETICS; FLUOROMETRY; HETEROZYGOTE; HUMAN; HUMAN CELL; HURLER SYNDROME; LEUKOCYTE; PROTEIN DENATURATION; THERMOSTABILITY;

CHILD; ENZYME STABILITY; HETEROZYGOTE DETECTION; HUMANS; HYDROGEN-ION CONCENTRATION; IDURONIDASE; KINETICS; LEUKOCYTES; MUCOPOLYSACCHARIDOSIS I; TEMPERATURE;

EID: 0036148291     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0188-4409(01)00334-4     Document Type: Article

References (13)

1. The mucopolysaccharidoses
2. Hurler's syndrome, and α-L-iduronidase deficiency
3. A method for α-L-iduronidase assay
4. Detection of the carrier state of Hurler's syndrome by assay of α-L-iduronidase in leukocytes
5. α-L-iduronidase activity in cultured skin fibroblast and amniotic fluid cells
6. Current status and future direction for carrier detection in lysosomal storage diseases
7. Mucopolysaccharidosis type I; characterization of novel mutations affecting alpha-L-iduronidase activity
8. Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes
9. A fluorimetric assay using 4-methylumbelliferyl-α-L-iduronide for the estimation of α-L-idurornidase activity and the detection of Hurler and Scheie syndromes
10. The determination of enzyme dissociation constants
11. Molecular genetics of mucopolysaccharidosis type I; diagnostic, clinical and biological implications
12. Characterization of β-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects
13. Properties of α-L-iduronidase in cultured skin fibroblast from α-L-iduronidase-deficient patients