Luc Regal

Brussels, BRU, Belgium

Last Updated: 09/26/2026

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Found 31 publications

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

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Journal: Brain : a journal of neurology
Published: April 21, 2023

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

Journal: Molecular genetics and metabolism
Published: December 04, 2022

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Journal: Journal of inherited metabolic disease
Published: February 04, 2022

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.

Journal: iScience
Published: May 05, 2021

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Journal: Orphanet journal of rare diseases
Published: August 08, 2020

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Journal: Orphanet journal of rare diseases
Published: November 26, 2019

Defining the phenotypical spectrum associated with variants in TUBB2A.

Defining the phenotypical spectrum associated with variants in TUBB2A.

Journal: Journal of medical genetics
Published: November 26, 2019

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Journal: JIMD reports
Published: May 22, 2019

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.

Journal: Frontiers in genetics
Published: February 22, 2019

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Journal: Developmental medicine and child neurology
Published: January 29, 2018

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.

Journal: International journal of cardiology
Published: January 10, 2018
Showing 1-12 of 31

Last Updated: 09/26/2026