Marie‐Thérèse Abi‐Warde

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 152 citations · Full text

Medicine, Genetics, Neurology +17

Clinical and biological characterization of 20 patients with <scp>TANGO2</scp> deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Claire‐Marine Bérat, Sebastián Montealegre, Arnaud Wiedemann et al. · Journal of Inherited Metabolic Disease · 2020 · 44 citations

Life Sciences, Biochemistry, Physiology +14

Long‐term metabolic follow‐up and clinical outcome of 35 patients with maple syrup urine disease

Marie‐Thérèse Abi‐Warde, Célina Roda, Jean‐Baptiste Arnoux et al. · Journal of Inherited Metabolic Disease · 2017 · 39 citations

Medicine, Biochemistry, Clinical Nutrition +9

The different clinical facets of SYN1-related neurodevelopmental disorders

Ilaria Parenti, Elsa Leitão, Alma Kuechler et al. · Frontiers in Cell and Developmental Biology · 2022 · 28 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency

Florence Habarou, Nadia Bahi‐Buisson, Élise Lebigot et al. · JIMD Reports · 2017 · 10 citations

Medicine, Neurology, Nutrition +15