Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference27 articles.
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1. Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome;Frontiers in Pediatrics;2024-02-20
2. Mitochondrial phospholipid metabolism in health and disease;Journal of Cell Science;2023-09-01
3. Two cases of MEGDHEL syndrome diagnosed with hyperammonemia;Journal of Pediatric Endocrinology and Metabolism;2022-12-15
4. First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene;International Journal of Developmental Neuroscience;2022-08-22
5. Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease;Frontiers in Molecular Biosciences;2022-06-14
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