Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females-Reference-Cited by-同舟云学术

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

Published:2020-12-24 Issue:3 Volume:185 Page:909-915
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Clarkston Kathryn¹²,Lee Joy³⁴,Donoghue Sarah⁴,Peters Heidi³⁴,Eiroa Hernan⁵,Shah Amit A.⁶⁷,Loomes Kathleen⁶⁷,Wen Jessica⁶⁷,Oliver Mark³⁸,Hardikar Winita³⁸,Prada Carlos E.¹⁹^ORCID,Asai Akihiro¹²^ORCID

Affiliation:

1. Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

2. Division of Gastroenterology, Hepatology, and Nutrition Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

3. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

4. Department of Metabolic Medicine The Royal Children's Hospital Parkville Victoria Australia

5. Servicio de Errores Congenitos del Metabolismo Hospital de Pediatria "J.P.Garrahan" Buenos Aires Argentina

6. Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

7. Division of Gastroenterology, Hepatology, and Nutrition Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. Department of Gastroenterology The Royal Children's Hospital Parkville Victoria Australia

9. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62031

Reference16 articles.

1. A longitudinal study of urea cycle disorders

2. Liver involvement in urea cycle disorders: a review of the literature

3. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency

4. EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure

5. Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency