Concepedia

Hilal H. Al-Shekaili

HH

Statistics

Publications

4

Citations

197

H-Index

4

Active since

2018

Affiliations

BC Children's Hospital(Current)

University of British Columbia

Radboud University Nijmegen

Radboud University Medical Center

University Medical Center Groningen

Hilal H. Al-Shekaili is an author at BC Children's Hospital specializing in epilepsy, life sciences, and genetic epilepsies.

Publications per year

2018–2024

4

Publications

4

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac et al. · Brain · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx et al. · Journal of Clinical Investigation · 2021 · 63 citations · Full text

Life Sciences, Biochemistry, Epilepsy +15

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency

Hilal H. Al-Shekaili, Terri L. Petkau, Izabella A. Pena et al. · Human Molecular Genetics · 2020 · 34 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice

Amritpal S Johal, Hilal H. Al-Shekaili, Muna Abedrabbo et al. · Cell Reports · 2024 · 10 citations · Full text

Life Sciences, Biochemistry, Pharmacology +17

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