Publications by authors named "Sarah AlSubhi"

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Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Sarah Alsubhi, Saoussen Berrahmoune, Roy W R Dudley, David Dufresne, Elisabeth Simard Tremblay

J Neurol· May 2024

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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Sarah Alsubhi

Genet Med· January 2023

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Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas

Front Neurol· October 2022

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Teaching NeuroImages: CLOVES Syndrome.
Meagan Collins, Eric Krochmalnek, Sarah Alsubhi, Myriam Srour

Neurology· March 2021

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Congenital disorders of glycosylation: The Saudi experience.
Sarah Alsubhi, Amal Alhashem, Eissa Faqeih, Majid Alfadhel, Abdullah Alfaifi

Am J Med Genet A· October 2017

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Sepiapterin reductase deficiency: Report of 5 new cases.
Sarah AlSubhi, Saad AlShahwan, Mohamed AlMuhaizae, Hamed AlZaidan, Brahim Tabarki

Eur J Paediatr Neurol· May 2017

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Further Delineation of the ALG9-CDG Phenotype.
Sarah AlSubhi, Amal AlHashem, Anas AlAzami, Kalthoum Tlili, Saad AlShahwan

JIMD Rep· May 2016

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