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Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.
Clin Case Rep. 2022 May 27;10(5):e05904. doi: 10.1002/ccr3.5904. eCollection 2022 May.
Clin Case Rep. 2022.
PMID: 35664514
Free PMC article.
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Al Zaabi N, Al Menhali N, Al-Jasmi F.
Al Zaabi N, et al.
Mol Genet Genomic Med. 2018 Jan;6(1):109-113. doi: 10.1002/mgg3.341. Epub 2017 Nov 27.
Mol Genet Genomic Med. 2018.
PMID: 29179256
Free PMC article.
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A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR.
Mohamed FE, et al.
J Mol Neurosci. 2020 Jan;70(1):45-55. doi: 10.1007/s12031-019-01398-6. Epub 2019 Aug 29.
J Mol Neurosci. 2020.
PMID: 31468281
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Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.
Al Jasmi F, Al Zaabi N, Al-Thihli K, Al Teneiji AM, Hertecant J, El-Hattab AW.
Al Jasmi F, et al.
J Cent Nerv Syst Dis. 2020 Feb 29;12:1179573520909377. doi: 10.1177/1179573520909377. eCollection 2020.
J Cent Nerv Syst Dis. 2020.
PMID: 32165851
Free PMC article.
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