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Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.
J Inherit Metab Dis. 2020 Jul;43(4):657-670. doi: 10.1002/jimd.12220. Epub 2020 Feb 9.
J Inherit Metab Dis. 2020.
PMID: 32017139
Review.
The bifunctional homooligomeric enzyme delta(1) -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disability, short stature, …
The bifunctional homooligomeric enzyme delta(1) -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated wi …
Pathophysiology of brain dysfunction in hyperammonemic syndromes: The many faces of glutamine.
Butterworth RF.
Butterworth RF.
Mol Genet Metab. 2014 Sep-Oct;113(1-2):113-7. doi: 10.1016/j.ymgme.2014.06.003. Epub 2014 Jun 24.
Mol Genet Metab. 2014.
PMID: 25034052
Review.
Skeletal muscle becomes primarily responsible for removal of excess ammonia in liver failure and in UCDs, an adaptation that results from a post-translational induction of the glutamine synthetase (GS) gene. The importance of muscle in ammonia removal in hyperammonemia acc …
Skeletal muscle becomes primarily responsible for removal of excess ammonia in liver failure and in UCDs, an adaptation that results from a …
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Hyperammonemia and neonatal cardiac failure.
Adamovic T, Jouvet P, Vobecky S, Garel L, Rougemont AL, Alvarez F.
Adamovic T, et al.
Minerva Anestesiol. 2011 May;77(5):554-7. Epub 2011 Mar 2.
Minerva Anestesiol. 2011.
PMID: 21540812
Free article.
Review.
Severe hyperammonemia (hyperNH3) in neonatal cardiac failure after cardiac surgery is rare. We report a case of a 2470-g female infant born at the week 37 of gestation with complex congenital heart disease (truncus arteriosus type III, interrupted aortic arch …
Severe hyperammonemia (hyperNH3) in neonatal cardiac failure after cardiac surgery is rare. We report a case of a 2470-g female infan …
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Portal-systemic encephalopathy in non-cirrhotic patients: classification of clinical types, diagnosis and treatment.
Watanabe A.
Watanabe A.
J Gastroenterol Hepatol. 2000 Sep;15(9):969-79. doi: 10.1046/j.1440-1746.2000.02283.x.
J Gastroenterol Hepatol. 2000.
PMID: 11059925
Review.
Type II designates a type of intra/extrahepatic shunt that originates from the umbilical part of the portal vein and serpentines in the liver, then leaves the liver. Type III (extrahepatic type) occurs most frequently. Type IV (extrahepat …
Type II designates a type of intra/extrahepatic shunt that originates from the umbilical part of the portal vein and serpentin …
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