Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample

Journal of Inherited Metabolic Disease

Volumn 20, Issue 5, 1997, Pages 728-729

  Stankovics, J ^a   Molnar D ^a   Burus, I ^a   Pinter Z ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

SIALIC ACID;

ARTICLE; CASE REPORT; GAS CHROMATOGRAPHY; HUMAN; INFANT; MALE; MASS SPECTROMETRY; STORAGE DISEASE; URINALYSIS;

GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; LYSOSOMAL STORAGE DISEASES; MALE; N-ACETYLNEURAMINIC ACID;

EID: 0030805294     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005359417508     Document Type: Article

References (3)

1. Gahl WA, Schneider JA, Pertti PA (1995) Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th edn. New York: McGraw-Hill, 3763-3796.
2. Humbel R, Collart M (1975) Oligosacharides in the urine of patients with glycoprotein storage diseases. Rapid detection by thin-layer chromatography. Clin Chim Acta 60: 143-148.
3. Paschke E, Gruber W, Ring E, Sperl W (1992) Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. J Inher Metab Dis. 15: 47-56.