Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma α-L-iduronidase

Clinica Chimica Acta

Volumn 312, Issue 1-2, 2001, Pages 81-86

  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

Biochemical propertiesPlasma L iduronidase; Mucopolysaccharidosis type I heterozygotes

Indexed keywords

LEVO IDURONIDASE;

ANALYTICAL PARAMETERS; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME BLOOD LEVEL; ENZYME STABILITY; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HURLER SYNDROME; PH; PRIORITY JOURNAL; PROGENY; SCHEIE SYNDROME;

ENZYME STABILITY; HETEROZYGOTE; HUMANS; HYDROGEN-ION CONCENTRATION; IDURONIDASE; MUCOPOLYSACCHARIDOSIS I; PEDIGREE; REFERENCE VALUES;

EID: 0034808140     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(01)00593-9     Document Type: Article

References (16)

1. The mucopolysaccharidosis
2. The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment
3. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
4. Molecular genetics of mucopolysaccharidosis type I: Diagnostic, clinical and biological implications
5. α-L-iduronidase genotype/protein function relationships in MPS I fibroblasts
6. Hurler's syndrome, and α-L-iduronidase deficiency
7. A method for α-L-iduronidase assay
8. Detection of the carrier state of Hurler's syndrome by assay of α-L-iduronidase in leukocytes
9. Characterization of β-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects
10. Unique frequency of known mutations in Brazilian MPS I patients
11. A fluorometric assay using 4-methylumbeliferyl-α-L-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes
12. The determination of enzyme dissociation constants
13. Properties of α-L-iduronidase in cultured skin fibroblasts from α-l-iduronidase-deficient patients
14. Biochemical discrimination of Hurler and Scheie syndromes
15. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
16. Mucopolysaccharidosis type I: Characterization of novel mutations affecting α-L-iduronidase activity