Results 131 to 140 of about 1,894 (150)

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

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

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

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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  

An Adult With Type 2 Citrullinemia Presenting in Europe

New England Journal of Medicine, 2008
Eleonora Paradies, Robin Lachmann, Giuseppe Fiermonte   +2 more
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