First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)

2017 ◽  
Vol 43 (1) ◽  
pp. 124-128 ◽  
Author(s):  
E. Kose ◽  
P. Kuyum ◽  
B. Aksoy ◽  
J. Häberle ◽  
N. Arslan ◽  
...  
Keyword(s):  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
First Report ◽  
Argininosuccinate Synthetase Deficiency

CitruUllinemia, argininosuccinate synthetase deficiency

1977 ◽  
Vol 19 (1) ◽  
pp. 51-52 ◽  
Author(s):  
E. Spector ◽  
N. Kennaway ◽  
H. Punnett ◽  
A.E. Greene ◽  
L.L.. Coriell
Keyword(s):  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
Argininosuccinate Synthetase Deficiency

scholarly journals Impaired T cell function in argininosuccinate synthetase deficiency

2014 ◽  
Vol 97 (2) ◽  
pp. 273-278 ◽  
Author(s):  
Tatyana N. Tarasenko ◽  
Julio Gomez-Rodriguez ◽  
Peter J. McGuire
Keyword(s):  
T Cell ◽  
Cell Function ◽  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
T Cell Function ◽  
Argininosuccinate Synthetase Deficiency

Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency

2004 ◽  
Vol 144 (4) ◽  
pp. 536-540 ◽  
Author(s):  
Kevin D. McBryde ◽  
Timothy L. Kudelka ◽  
David B. Kershaw ◽  
Patrick D. Brophy ◽  
John J. Gardner ◽  
...  
Keyword(s):  
Amino Acids ◽  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
Argininosuccinate Synthetase Deficiency

Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency

1994 ◽  
Vol 29 (1) ◽  
pp. 31-34 ◽  
Author(s):  
Shinji Tamura ◽  
Sumio Kawata ◽  
Kazuto Fukuda ◽  
Yoshiaki Inui ◽  
Hiroki Kakimoto ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
Ammonia Level ◽  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
Plasma Ammonia ◽  
Argininosuccinate Synthetase Deficiency

scholarly journals An Adult-onset Case of Argininosuccinate Synthetase Deficiency Presenting with Atypical Citrullinemia.

1999 ◽  
Vol 38 (7) ◽  
pp. 590-596 ◽  
Author(s):  
Kenji OSAFUNE ◽  
Keiji ICHIKAWA ◽  
Takashi YASUI ◽  
Akira SEKIKAWA ◽  
Hiroya TAKEOKA ◽  
...  
Keyword(s):  
Adult Onset ◽  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
Argininosuccinate Synthetase Deficiency

NEONATAL TYPE OF ARGININOSUCCINATE SYNTHETASE DEFICIENCY

1985 ◽  
Vol 35 (4) ◽  
pp. 995-1006
Author(s):  
Hajime Kuhara ◽  
Takashi Wakabayashi ◽  
Hidemasa Kishimoto ◽  
Kotaro Hayashi ◽  
Toshiyuki Katoh ◽  
...  
Keyword(s):  
Argininosuccinate Synthetase ◽  
Synthetase Deficiency ◽  
Argininosuccinate Synthetase Deficiency
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