Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-013-0239-1.pdf
Reference10 articles.
1. Häberle J, Pauli S, Linnebank M, Kleijer WJ, Bhakker HD, Wanders RJA, et al. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. Human Genetics. 2002;110:327–333.
2. Sander J, Janzen N, Sander S, Steuerwald U, Das AM, Scholl S, et al. Neonatal screening for citrullinemia. Eur J Pediatr. 2003;162:417–420.
3. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Diseases. 2012;7:32.
4. Bachman C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Paediatr. 2003;162:410–416.
5. Bachman C. Long term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur J Pediatr. 2003;162:S29–S33.
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2. Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation;The Indian Journal of Pediatrics;2019-03-08
3. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing;Orphanet Journal of Rare Diseases;2018-10-01
4. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations;Human Mutation;2017-02-15
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