scholarly journals Argininosuccinic aciduria

2020 ◽  
Author(s):  
Keyword(s):  
Argininosuccinic Aciduria

scholarly journals Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

2010 ◽  
Vol 3 (1) ◽  
Author(s):  
Faiqa Imtiaz ◽  
Moeen Al-Sayed ◽  
Danyah Trabzuni ◽  
Bashair R Al-Mubarak ◽  
Osama Alsmadi ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Novel Mutations ◽  
Argininosuccinic Aciduria

An Occurrence of Argininosuccinic Aciduria

PEDIATRICS ◽  
1964 ◽  
Vol 33 (2) ◽  
pp. 280-283
Author(s):  
MARVIN D. ARMSTRONG ◽  
KERIN N. YATES ◽  
M. G. STEMMERMANN
Keyword(s):  
Urinary Metabolites ◽  
Mentally Retarded ◽  
Normal Range ◽  
Argininosuccinic Aciduria

The occurrence of two sibs with argininosuccinic aciduria is reported, and data are presented on their urinary metabolites. Neither of the children is severely mentally retarded, and one is almost in the low normal range of ability.

Treatment of argininosuccinic aciduria with keto analogues of essential amino acids

1978 ◽  
Vol 31 (10) ◽  
pp. 1808-1811 ◽  
Author(s):  
H Böhles ◽  
D Harms ◽  
H Heid ◽  
D Schmid ◽  
W Fekl
Keyword(s):  
Amino Acids ◽  
Essential Amino Acids ◽  
Argininosuccinic Aciduria ◽  
Keto Analogues

Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria

1986 ◽  
Vol 159 (1) ◽  
pp. 59-67 ◽  
Author(s):  
Keiko Kobayashi ◽  
Yoshihiro Itakura ◽  
Takeyori Saheki ◽  
Kyoko Nakano ◽  
Mariko Sase ◽  
...  
Keyword(s):  
Argininosuccinate Lyase ◽  
Argininosuccinic Aciduria

ARGININOSUCCINIC ACIDURIA

Brain ◽  
1970 ◽  
Vol 93 (2) ◽  
pp. 413-422 ◽  
Author(s):  
P. D. LEWIS ◽  
A. L. MILLER
Keyword(s):  
Argininosuccinic Aciduria

The Relationship between the Formation of Urea and Argininosuccinate in a Patient with Argininosuccinic Aciduria Studied with Labelled Precursors

1974 ◽  
Vol 46 (6) ◽  
pp. 715-727
Author(s):  
C. W. Crane ◽  
F. A. Jenner ◽  
R. J. Pollitt
Keyword(s):  
Oral Dose ◽  
Urinary Excretion ◽  
Time Course ◽  
Urea Cycle ◽  
Product Models ◽  
Ammonium Lactate ◽  
Argininosuccinic Aciduria ◽  
15N Urea ◽  
The Relationship

1. The time-course of urinary excretion of [15N]urea and [15N]argininosuccinate or [15N]arginine after an oral dose of [15N]ammonium lactate has been followed in patients with argininosuccinic aciduria and cystine-lysinuria respectively. The labelled argininosuccinate and arginine appeared more slowly than expected on simple precursor-product models. 2. In the patient with argininosuccinic aciduria, simultaneous ingestion of [15N]-ammonium lactate and [carbamoyl-14C]citrulline gave very different ratios of labelling with the two isotopes for urinary urea and argininosuccinate. Urinary argininosuccinate had not been in equilibrium with the urea precursor in this patient, but the plasma [14C]citrulline bore a reasonable precursor-product relationship to the urinary [14C]argininosuccinate. 3. Intravenous [guanidino-14C]arginine given to the patient with argininosuccinic aciduria resulted in a much higher degree of labelling of the plasma globulins than the albumin. This is consistent with a considerable turnover of hepatic arginine, as would be expected with a functioning Krebs-Henseleit urea cycle. 4. These results can be explained with a compartmentation model in which most of the urea is synthesized in the liver, but most of the urinary argininosuccinate is peripheral in origin.

ARGININOSUCCINIC ACIDURIA IN MONILETHRIX

The Lancet ◽  
1964 ◽  
Vol 284 (7363) ◽  
pp. 789-791 ◽  
Author(s):  
J.C.M. Grosfeld ◽  
J.A. Mighorst ◽  
T.M.G.F. Moolhuysen
Keyword(s):  
Argininosuccinic Aciduria

Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria

1980 ◽  
Vol 105 (2) ◽  
pp. 257-267 ◽  
Author(s):  
Thomas L. Perry ◽  
Mary L.K. Wirtz ◽  
Nancy G. Kennaway ◽  
Y. Edward Hsia ◽  
Fernando C. Atienza ◽  
...  
Keyword(s):  
Amino Acid ◽  
Argininosuccinic Aciduria
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