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1-5 of 5 results for ALDH7A1

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Open accessResearch articleFirst published 2026

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1 : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment

Anastasia Ambrose, Morganne McCabe, Shalini Bahl [...]

Therapeutic Advances in Rare Disease

Restricted accessResearch articleFirst published April, 2015

Enas Nasr, Eva Mamak, Anette Feigenbaum [...]

Journal of Child Neurology

Restricted accessResearch articleFirst published May, 2014

Anna Baumgart, Sarah von Spiczak, Nanda M. Verhoeven-Duif [...]

Journal of Child Neurology

Restricted accessCase reportFirst published 2025

Bhoojata G, P.V. Rama Rao, Shreya

Journal of Neonatology

Restricted accessOtherFirst published December, 2008

Magdalena Kaczorowska, Tomasz Kmiec, Cornelis Jakobs [...]

Journal of Child Neurology