Article
Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample
J. Stankovics,
J. Stankovics
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author D. Molnár,
D. Molnár
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author I. Burus,
I. Burus
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author Z. Pintér,
Z. Pintér
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author
J. Stankovics,
J. Stankovics
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author D. Molnár,
D. Molnár
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author I. Burus,
I. Burus
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author Z. Pintér,
Z. Pintér
Department of Paediatrics, University Medical School of Pécs, Pécs József A.u.7, 7623 Hungary
Search for more papers by this author
First published: 01 September 1997
No abstract is available for this article.
REFERENCES
- 1Gahl WA, Schneider JA, Pertti PA, Scriver CR, Beaudet AL, Sly WS, Valle D (1995) Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In: The Metabolic and Molecular Bases of Inherited Disease, 7th edn.. New York: McGraw-Hill, 3763–3796.
- 2Humbel 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, .
- 3Paschke 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.
