Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation
Author:
Publisher
Wiley
Subject
Transplantation,Hepatology,Surgery
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/lt.22407/fullpdf
Reference21 articles.
1. Current concepts in the pathogenesis of urea cycle disorders;Braissant;Mol Genet Metab,2010
2. Ammonia toxicity and its prevention in inherited defects of the urea cycle;Walker;Diabetes Obes Metab,2009
3. Adult nonhepatic hyperammonemia: a case report and differential diagnosis;LaBuzetta;Am J Med,2010
4. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency;Martínez;Mol Genet Metab,2010
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1. Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned;Molecular Genetics and Metabolism Reports;2022-12
2. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency;Clinica Chimica Acta;2022-02
3. A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation;Internal Medicine;2022
4. Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management;Frontiers in Neurology;2021-03-04
5. Management of late onset urea cycle disorders—a remaining challenge for the intensivist?;Annals of Intensive Care;2021-01-06
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