Marie-therese T. Warde-Abi

Strasbourg, France

Last Updated: 09/26/2026

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Found 14 publications

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Journal: Molecular genetics and metabolism

Published: June 10, 2025

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Journal: Molecular genetics and metabolism

Published: July 27, 2023

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Journal: Clinical genetics

Published: August 18, 2022

The different clinical facets of SYN1-related neurodevelopmental disorders.

The different clinical facets of SYN1-related neurodevelopmental disorders.

Journal: Frontiers in cell and developmental biology

Published: August 15, 2022

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.

Journal: Orphanet journal of rare diseases

Published: December 08, 2021

Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.

Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.

Journal: Neuropediatrics

Published: January 28, 2021

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Journal: Journal of inherited metabolic disease

Published: June 24, 2020

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

Journal: Molecular genetics and metabolism

Published: February 15, 2020

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 14, 2019

Defining the phenotypic spectrum of SLC6A1 mutations.

Defining the phenotypic spectrum of SLC6A1 mutations.

Journal: Epilepsia

Published: November 24, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026