Publications by authors named "Isabelle Adant"

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Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant, Sherifa Ahmed Hamed, Menelaos Pipis

Brain· August 2025

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Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in and .
Silvia Radenkovic, Isabelle Adant, Matthew J Bird, Johannes V Swinnen, David Cassiman

Cells· April 2025

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Biallelic variants in cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant, Sherifa Ahmed Hamed, Menelaos Pipis

medRxiv· July 2024

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Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.
Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss

J Inherit Metab Dis· July 2023

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Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.
Isabelle Adant, Matthew Bird, Bram Decru, Petra Windmolders, Marie Wallays

Mol Metab· September 2022

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Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
Isabelle Adant, Mathias Declercq, Matthew Bird, Marijke Bauters, Nancy Boeckx

J Hepatol· May 2020

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Long-term outcomes of very low birth weight infants with spontaneous intestinal perforation: A retrospective case-matched cohort study.
Isabelle Adant, Marc Miserez, Gunnar Naulaers, Kate Carkeek, Els Ortibus

J Pediatr Surg· October 2019

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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira

Metabolites· October 2019

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