Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders-Reference-Cited by-同舟云学术

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Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders

Published:2021-04 Issue: Volume:183 Page:89-99
ISSN:0300-9084
Container-title:Biochimie
language:en
Short-container-title:Biochimie

Author:

Makris Georgios,Lauber Matthias,Rüfenacht Véronique,Gemperle Corinne,Diez-Fernandez Carmen,Caldovic Ljubica,Froese D. Sean,Häberle Johannes

Funder

Swiss National Science Foundation, Switzerland

Publisher

Elsevier BV

Subject

General Medicine,Biochemistry

Reference73 articles.

1. Disorders of the urea cycle and related enzymes;Häberle,2016

2. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999

3. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter;Camacho;Nat. Genet.,1999

4. The incidence of urea cycle disorders;Summar;Mol. Genet. Metabol.,2013

5. Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders-review and meta-analysis of observational studies published over more than 35 years;Burgard;J. Inherit. Metab. Dis.,2016

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3. Drug-induced hyperammonaemia;Journal of Clinical Pathology;2023-05-10

4. Assessing Protein Interactions for Clustering of Mitochondrial Urea Cycle Enzymes;Methods in Molecular Biology;2022

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