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Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs

Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs
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Mild Citrullinemia in Caucasians Is an Allelic Variant of Argininosuccinate Synthetase Deficiency (Citrullinemia Type 1)

Molecular Genetics and Metabolism, 2003
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II). Citrullinemia type 1-referred to as classical citrullinemia-is characterized by largely elevated concentrations of citrulline ...
Johannes Häberle
exaly   +3 more sources

Diagnosis of Citrullinemia Type 1 Carriage After Identification of Mild Citrullinemia on Neonatal Screening

Pediatrics International, 2018
Hiroaki Sato, Ko Ichihashi, Daisuke Sugawara   +2 more
exaly   +3 more sources

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

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

Journal of Fetal Medicine, 2021
AbstractInborn errors of metabolism are an important cause of non-communicable under-five childhood mortality. Lack of confirmatory ‘genomic’ results in the deceased index case due to unavailability of post-mortem biological samples, can pose challenges in reproductive counseling of the parents in future pregnancies. Our case describes a couple seeking
Shruti Bajaj, Uday Joglekar, Anil Jalan, Johannes Häberle, Veronique Rüfenacht   +4 more
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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

Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation

The Indian Journal of Pediatrics, 2019
Citrullinemia Type 1 (also known as classic citrullinemia) is a rare autosomal recessive urea cycle disorder due to reduced activity of argininosuccinate synthetase 1; characterized by hyperammonemia leading to neurological damage. The authors report a case of an 8-y boy who was diagnosed with Citrullinemia Type 1 at birth which was anticipated ...
Aashika Janwadkar, Nikhil Shirole, Aabha Nagral, Rochana Bakshi, Suresh Vasanth, Abhijit Bagde, Vijay Yewale, Darius Mirza   +7 more
openaire   +2 more sources