Results 111 to 120 of about 27,934,643 (129)

Mutation Analysis of Korean Patients With Citrullinemia

Molecules and Cells, 2000
Citrullinemia is an autosomal recessive disease due to the mutations in the argininosuccinate synthetase (ASS) gene. Mutation analysis was performed on three Korean patients with citrullinemia.
Kyeong-Man Hong, Si-Houn Hahn, J K Kim
exaly   +2 more sources

Homozygous SLC25A13 Mutation in a Taiwanese Patient With Adult-Onset Citrullinemia Complicated With Steatosis and Hepatocellular Carcinoma

Journal of the Formosan Medical Association, 2006
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
Li-Chun Chang, Chih-Chao Yang, Wuh-liang Hwu   +2 more
exaly   +3 more sources

Neonatal Citrullinemia: Novel, Reversible Neuroimaging Findings Correlated With Ammonia Level Changes

Pediatric Neurology, 2014
BACKGROUND: Citrullinemia type I is an autosomal recessive disorder of the urea cycle in which a patient lacks the cytosolic enzyme, argininosuccinic acid synthetase. This enzyme deficiency results in elevated levels of ammonia, glutamine, and citrulline.
Joseph Legacy, Ronald Davis
exaly   +2 more sources

Diffusion-Weighted Magnetic Resonance Imaging Findings of a Patient With Neonatal Citrullinemia During Acute Episode

European Journal of Paediatric Neurology, 2009
Reports on citrullinemia usually describe the imaging findings in the adult form of the disease. However, neuroimaging findings of neonatal cases are seldom reported.
Mehmet Sait Albayram, Civan Islak, Batuhan Kara   +2 more
exaly   +2 more sources

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Mild Citrullinemia in Caucasians Is an Allelic Variant of Argininosuccinate Synthetase Deficiency (Citrullinemia Type 1)

Molecular Genetics and Metabolism, 2003
Johannes Häberle
exaly  

Infantile Cholestatic Jaundice Associated With Adult-Onset Type II Citrullinemia

Journal of Pediatrics, 2001
Takeyori Saheki, Daiki Abukawa, Tomotsugu Yasuda   +2 more
exaly  

Increased Urinary Excretion of Argininosuccinate in Type II Citrullinemia

Clinica Chimica Acta, 1987
Takeyori Saheki, Iturô Inoue, Seiji Matuo   +2 more
exaly  

Possible Clinical and Histologic Manifestations of Adult-Onset Type II Citrullinemia in Early Infancy

Journal of Pediatrics, 2001
Takeyori Saheki, Takeshi Tomomasa, Masahiko Kimura   +2 more
exaly  

Investigation of Citrullinemia Type I Variants by in Vitro Expression Studies

Human Mutation, 2008
Johannes Häberle
exaly  

Prenatal Diagnosis of Citrullinemia and Argininosuccinic Aciduria: Evidence for a Transmission Ratio Distortion in Citrullinemia

Prenatal Diagnosis, 2006
Johannes Häberle, Wim J Kleijer, Víctor H Garritsen   +2 more
exaly