Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

J Inherit Metab Dis. 1997 Jul;20(3):343-4. doi: 10.1023/a:1005361408031.

Authors

I Sebesta¹, J Krijt, S Kmoch, H Hartmannová, M Wojda, J Zeman

Affiliation

¹ Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.

PMID: 9266351
DOI: 10.1023/a:1005361408031

No abstract available

Publication types

Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

Adenylosuccinate Lyase / deficiency*
Child, Preschool
Chromatography, High Pressure Liquid
Czech Republic
Erythrocytes / enzymology
Female
Humans
Infant
Intellectual Disability / enzymology
Intellectual Disability / genetics
Lymphocytes / enzymology
Male
Nervous System Diseases / enzymology
Nervous System Diseases / genetics*
Nervous System Diseases / psychology
Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
Purine-Pyrimidine Metabolism, Inborn Errors / psychology

Substances

Adenylosuccinate Lyase