Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia

Nephrology ◽  
2019 ◽  
Vol 24 (3) ◽  
pp. 330-335
Author(s):  
Muhittin Celik ◽  
Osman Akdeniz ◽  
Nezir Ozgun
Keyword(s):  
Peritoneal Dialysis ◽  
Urea Cycle ◽  
Urea Cycle Defects ◽  
Organic Acidaemia

Insights into Gene Therapy for Urea Cycle Defects by Mathematical Modeling

2019 ◽  
Vol 30 (11) ◽  
pp. 1385-1394 ◽  
Author(s):  
Cindy Y. Kok ◽  
Sharon C. Cunningham ◽  
Philip W. Kuchel ◽  
Ian E. Alexander
Keyword(s):  
Mathematical Modeling ◽  
Gene Therapy ◽  
Urea Cycle ◽  
Urea Cycle Defects

Plasma carnosinase deficiency in patients with urea cycle defects

1975 ◽  
Vol 61 (2) ◽  
pp. 215-218 ◽  
Author(s):  
E.Ann Burgess ◽  
V.G. Oberholzer ◽  
T. Palmer ◽  
B. Levin
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Defects

The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

1999 ◽  
Vol 22 (2) ◽  
pp. 174-184 ◽  
Author(s):  
J. R. Bonham ◽  
P. Guthrie ◽  
M. Downing ◽  
J. C. Allen ◽  
M. S. Tanner ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Urea Cycle ◽  
Load Test ◽  
Urea Cycle Defects
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