Improved standards for prenatal diagnosis of citrullinemia
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference13 articles.
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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. Acute hepatic decompensation precipitated by pregnancy-related catabolic stress: a rare mimic of acute liver failure;Sinclair;Obstet. Gynecol.,2014
5. Prenatal diagnosis of citrullinaemia: review of a 10-year experience including recent use of DNA analysis;Northrup;Prenat. Diagn.,1990
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1. Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I;Frontiers in Genetics;2023-07-07
2. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants;Molecular Genetics & Genomic Medicine;2023-01-20
3. Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor;Nature Communications;2021-04-15
4. Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review;BMC Medical Genetics;2019-06-17
5. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision;Journal of Inherited Metabolic Disease;2019-05-15
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