Results 251 to 260 of about 2,610,885 (275)

Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes

Neurological Sciences, 2011
An enzymatic abnormality of the urea cycle is a metabolic disorder occasionally seen in adults, but particularly in the puerperium. The main risk is acute hyperammoniemic encephalopathy, leading to psychosis, coma and even death if not diagnosed promptly and treated appropriately.
Maria Clara, Tonini, V, Bignamini, M, Mattioli   +2 more
openaire   +2 more sources

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

Journal of Human Genetics, 2018
Argininosuccinic aciduria (ASA), which is considered to be the second most common urea cycle disorder (UCD), is caused by an argininosuccinate lyase deficiency and is biochemically characterized by elevation of argininosuccinic acid and arginine deficiency.
Dahye, Kim, Jung Min, Ko, Yoon-Myung, Kim, Go Hun, Seo, Gu-Hwan, Kim, Beom Hee, Lee, Han-Wook, Yoo   +6 more
openaire   +2 more sources

Urea cycle deficiencies: pathophysiology and diagnostic investigation techniques

Cahiers Santé Médecine Thérapeutique, 2023
Imane Benbella, Zineb Azzine, Fahd Bouhou, Jihad El Amouri, Mustapha Mahmoud, Fatima El Boukhrissi   +5 more
openaire   +1 more source

[Influence of alimentary zinc deficiency on nitrogen elimination and enzyme activities of the urea cycle].

Journal of animal physiology and animal nutrition, 2001
Influence of alimentary zinc deficiency on nitrogen elimination and activities of urea cycle enzymes This study was conducted to investigate whether the hyperammonaemia shown in earlier zinc-deficiency experiments was the result of disturbed enzyme activities of the urea cycle.
openaire   +1 more source

O109 Urea cycle enzyme deficiency, a rare cause of adult encephalopathy

European Journal of Internal Medicine, 2003
P. Dias, C. Damas, M. Quintas, M. Pizarro, I. Barbosa, F.C. Chaves   +5 more
openaire   +1 more source

A urea cycle enzyme and protein deficiency.

The Proceedings of the Nutrition Society, 1975
D B, Jefferys, I R, White
openaire   +1 more source

Ultrastructural Pathology in Congenital Defects of the Urea Cycle: Ornithine Transcarbamylase and Carbamylphosphate Synthetase Deficiency

Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin, 1981
Claude Bachmann, Arthur Zimmermann
exaly  

Adult-Onset Type II Citrullinemia and Idiopathic Neonatal Hepatitis Caused by Citrin Deficiency: Involvement of the Aspartate Glutamate Carrier for Urea Synthesis and Maintenance of the Urea Cycle

Molecular Genetics and Metabolism, 2004
Kwang-Jen Hsiao, Meng Xian Li, Mikio Iijima   +2 more
exaly  

Auxiliary liver transplantation for urea-cycle enzyme deficiencies: lessons from three cases

Transplantation Proceedings, 1999
T, Kiuchi, Y, Edamoto, M, Kaibori, K, Uryuhara, M, Kasahara, S, Uemoto, H, Egawa, Y, Inomata, K, Tanaka   +8 more
openaire   +2 more sources

Clinical Outcomes of Neonatal Onset Proximal Versus Distal Urea Cycle Disorders Do Not Differ

Journal of Pediatrics, 2013
Robert McCarter, Mendel Tuchman
exaly