Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
Sebesta
I
I
Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.
Krijt
J
J
Kmoch
S
S
Hartmannová
H
H
Wojda
M
M
Zeman
J
J
D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D018153:Czech Republic; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009422:Nervous System Diseases / Q000201:enzymology / Q000235:genetics* / Q000523:psychology; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics* / Q000523:psychology
D000264:Adenylosuccinate Lyase