30-year follow-up of a patient with classic citrullinemia-Reference-Cited by-同舟云学术

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30-year follow-up of a patient with classic citrullinemia

Published:2012-06 Issue:2 Volume:106 Page:248-250
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Brunetti-Pierri Nicola,Lamance Kerri M.,Lewis Richard Alan,Craigen William J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

1. Pregnancy in a healthy woman with untreated citrullinemia;Potter;Am. J. Med. Genet. A,2004

2. A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene;Ito;J. Gastroenterol.,2004

3. Intrafamilial phenotypic variability in citrullinaemia: report of a family;Issa;J. Inherit. Metab. Dis.,1988

4. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia;Haberle;Hum. Genet.,2002

5. Neonatal screening for citrullinaemia;Sander;Eur. J. Pediatr.,2003

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 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

2. Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review;BMC Pregnancy and Childbirth;2022-12-19

3. Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations;JIMD Reports;2022-03-09

4. Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation;Cureus;2021-05-19

5. Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I;Transplantation;2021-02-22

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