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1-2 of 2 results for SLC13A5

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Select article: The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models,cell lines,an ongoing Natural History Study and an engaged patient advocacy organization

Open access

Review article

First published 2024

The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models,cell lines,an ongoing Natural History Study and an engaged patient advocacy organization

Tanya L. Brown, Matthew N. Bainbridge, Grit Zahn [...]

Therapeutic Advances in Rare Disease

Select article: Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Retricted access

Research article

First published 2021-9

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran [...]

Journal of Child Neurology

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