Stephanie Paquay

Brussels, BRU 1200, Belgium

Last Updated: 09/26/2026

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Found 10 publications

ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation.

ACAD10 and ACAD11 allow entry of 4-hydroxy fatty acids into β-oxidation.

Journal: Cellular and molecular life sciences : CMLS

Published: April 27, 2024

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Journal: Pediatric neurology

Published: March 10, 2024

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Journal: Brain : a journal of neurology

Published: August 09, 2023

ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.

ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.

Journal: The Journal of biological chemistry

Published: June 09, 2021

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics

Published: March 29, 2021

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Journal: Journal of inherited metabolic disease

Published: February 19, 2019

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

Journal: International journal of pediatric otorhinolaryngology

Published: September 10, 2017

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Journal: Journal of inherited metabolic disease

Published: October 10, 2016

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Journal: Molecular genetics and metabolism reports

Published: January 13, 2016

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.

Journal: Journal of child neurology

Published: February 25, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026