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1-5 of 5 results for ALDH7A1

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Research article

First 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

Retricted access

Research article

First published 2015-4

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

Journal of Child Neurology

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Research article

First published 2014-5

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

Journal of Child Neurology

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Case report

First published 2025

Bhoojata G, P.V. Rama Rao, Shreya

Journal of Neonatology

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Other

First published 2008-12

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

Journal of Child Neurology