Hurler-like phenotype: Enzymatic diagnosis in dried blood spots on filter paper

Clinical Chemistry

Volumn 47, Issue 12, 2001, Pages 2098-2102

  Chamoles, N A ^a   Blanco, M B ^a   Gaggioli, D ^a   Casentini, C ^a  

^a Laboratory of Neurochemistry   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

BUFFER; FLUORESCENT DYE; LYSOSOME ENZYME; RADIOACTIVE MATERIAL;

ADULT; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CALIBRATOR; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; HUMAN; HUNTER SYNDROME; HYDROLYSIS; LABORATORY DIAGNOSIS; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; NEWBORN; PHENOTYPE; STORAGE; TECHNIQUE;

EID: 0035202118     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.12.2098     Document Type: Article

References (11)

1. Clinical diagnosis of lysosomal storage diseases
2. Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper: The possibility of newborn diagnosis
3. Iduronate sulfatase from human plasma
4. Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
5. Measurement of gonadotropins in dried blood spots
6. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartyrglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes and Gaucher disease type III
7. Long-term and high-dose trials of enzyme replacement therapy in the canine model of MPS I
8. Long-term in vitro correction of α-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
9. Prevalence of lysosomal storage disorders
10. A sensitive fluorescence assay for the simultaneous and separate determination of aryl sulphatases A and B
11. Screening for lysosomal disorders