A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses

Genetics and Molecular Biology

Volumn 21, Issue 1, 1998, Pages 163-167

  Leistner, Sandra ^a   Giugliani, Roberto ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ACID GLYCOSAMINOGLYCAN; BETA GALACTOSIDASE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; KERATAN SULFATE; LEVO IDURONIDASE; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE; N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MEDICAL GENETICS; MUCOPOLYSACCHARIDOSIS; PRESCHOOL CHILD; SCHOOL CHILD; THIN LAYER CHROMATOGRAPHY; URINALYSIS;

EID: 0031802603     PISSN: 14154757     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1415-47571998000100028     Document Type: Article

References (7)

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2. Humbel, R. and Chamoles, N.A. (1972). Sequential thin layer chromatography of urinary acidic glycosaminoglycans. Clin. Chim. Acta. 40: 290-293.
3. Neufeld, E.F. and Muenzer, J. (1995). The mucopolysaccharidoses. In: The Metabolic Bases of Inherited Diseases (Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. eds.). 7th edn. McGraw-Hill, New York, 2465-2487.
4. Pennok, C.A. (1971). Urinary glycosaminoglycan excretion in the neonatal period. Acta. Poediat. Scand. 60: 299-300.
5. Renuart, A.W. (1966). Screening for inborn errors of metabolism associated with mental deficiency or neurological disorders or both. New Eng. J. Med. 274: 384-385.
6. Skoog, W.A. and Beck, W.S. (1956). Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes. Blood 11: 436-454.
7. Whiteman, P. (1973). The quantitative determination of glycosaminoglycans in urine with alcian blue 8GX. Biochem. J. 131: 351-357.