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JIMD Reports|May 4, 2018
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 PatientsSara Musa, Wafaa Eyaid, Kimberli Kamer, et al.
BMC Pediatrics|June 15, 2019
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trialMarwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, et al.
Molecular Genetics & Genomic Medicine|February 13, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3AAmjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, et al.
Biomedical Chromatography : BMC|November 24, 2004
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometryMohamed S Rashed, Amal A A Saadallah, Zuhair Rahbeeni, et al.
Molecular Genetics and Metabolism Reports|June 4, 2026
POLG-related disorders: Clinical and molecular Spectrum in the Saudi populationFuad Al Mutairi, Faisal Joueidi, Ziyad A Al Mutairi, et al.
Nature Genetics|August 24, 2004
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeRussell J Ferland, Wafaa Eyaid, Randall V Collura, et al.
Clinical Genetics|July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature ReviewAreej Alatawi, Omamah Alshehri, Aminah Alessa, et al.
Pediatric Neurology|March 31, 2019
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab SubjectsMohammed Almannai, Rana Felemban, Mohammed A Saleh, et al.
Nature Genetics|March 11, 2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndromeCarmen C Leitch, Norann A Zaghloul, Erica E Davis, et al.
The Journal of Pediatrics|December 11, 2013
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureAbdulrahman Al-Hussaini, Eissa Faqeih, Ayman W El-Hattab, et al.
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