Cellular and computational models reveal environmental and metabolic interactions in <scp> <i>MMUT</i> </scp> ‐type methylmalonic aciduria-Reference-Cited by-同舟云学术

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Cellular and computational models reveal environmental and metabolic interactions in MMUT ‐type methylmalonic aciduria

Published:2022-11-23 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Ramon Charlotte¹,Traversi Florian²,Bürer Céline²,Froese D. Sean²^ORCID,Stelling Jörg¹^ORCID

Affiliation:

1. Department of Biosystems Science and Engineering and SIB Swiss Institute of Bioinformatics ETH Zurich Basel Switzerland

2. Division of Metabolism and Children's Research Center University Children's Hospital Zurich, University of Zurich Zurich Switzerland

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12575

Reference50 articles.

1. METHYLMALONIC ACIDEMIA A Disorder Associated with Acidosis, Hyperglycinemia, and Hyperlactatemia

2. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

3. Long-term outcome in methylmalonic aciduria: A series of 30 French patients

4. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

5. Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia

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1. Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications;Metabolism;2024-01

2. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria;Human Molecular Genetics;2023-06-27

3. New insights into the pathophysiology of methylmalonic acidemia;Journal of Inherited Metabolic Disease;2023-05

4. Organic acidurias: Ingredients for precision medicine;Journal of Inherited Metabolic Disease;2023-04-27

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