Hypomorphic citrullinaemia due to mutatedASS1with episodic ataxia
Author:
Publisher
BMJ
Subject
General Medicine
Reference5 articles.
1. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia;Häberle;Hum Genet,2002
2. Investigation of citrullinemia type I variants by in vitro expression studies;Berning;Hum Mutat,2008
3. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia;Dimmock;Am J Med Genet A,2008
4. Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I;de Groot;J Inherit Metab Dis,2010
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2. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches;Tremor and Other Hyperkinetic Movements;2023
3. Metabolic Treatments of Cerebellar Ataxia;Contemporary Clinical Neuroscience;2023
4. Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study;Indian Journal of Pediatrics;2022-06-17
5. Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation;Cureus;2021-05-19
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