Al Jasmi F - Search Results

1

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.

Antony P, Baby B, Ali A, Vijayan R, Al Jasmi F. Antony P, et al. Among authors: al jasmi f. Biomedicines. 2023 Dec 4;11(12):3217. doi: 10.3390/biomedicines11123217. Biomedicines. 2023. PMID: 38137438 Free PMC article.

2

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Ali A, Almesmari FSA, Dhahouri NA, Saleh Ali AM, Aldhanhani MAAMA, Vijayan R, Al Tenaiji A, Al Shamsi A, Hertecant J, Al Jasmi F. Ali A, et al. Among authors: al shamsi a, al jasmi f, al tenaiji a. Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334. Genes (Basel). 2021. PMID: 34573316 Free PMC article.

3

Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene.

Al Dhahouri N, Ali A, Hertecant J, Al-Jasmi F. Al Dhahouri N, et al. Among authors: al jasmi f. Front Pediatr. 2022 Feb 3;9:803732. doi: 10.3389/fped.2021.803732. eCollection 2021. Front Pediatr. 2022. PMID: 35186827 Free PMC article.

4

A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.

Mohamed FE, Ali A, Al-Tenaiji A, Al-Jasmi A, Al-Jasmi F. Mohamed FE, et al. Among authors: al jasmi f, al jasmi a, al tenaiji a. J Mol Neurosci. 2022 Jun;72(6):1322-1333. doi: 10.1007/s12031-022-01987-y. Epub 2022 Mar 22. J Mol Neurosci. 2022. PMID: 35316504

5

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.

Al-Dirbashi OY, Alfadhel M, Al-Thihli K, Al Dhahouri N, Langhans CD, Al Hammadi Z, Al-Shamsi A, Hertecant J, Okun JG, Hoffmann GF, Al-Jasmi F. Al-Dirbashi OY, et al. Among authors: al shamsi a, al jasmi f, al hammadi z, al thihli k, al dhahouri n. Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9. Sci Rep. 2019. PMID: 31451751 Free PMC article.

6

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. Among authors: al gazali l, al sorkhy m, al zaabi n, al shamsi a, al jasmi f, al dirbashi oy. 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

7

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.

Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, Al Mamari W, Al-Murshedi F, Al-Jasmi F. Al Busaidi M, et al. Among authors: al jasmi f. Orphanet J Rare Dis. 2023 Nov 3;18(1):344. doi: 10.1186/s13023-023-02946-5. Orphanet J Rare Dis. 2023. PMID: 37924129 Free PMC article.

8

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. Among authors: al zaabi n, al thihli k, al teneiji am. 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.

9

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.

Mohamed FE, Al-Jasmi F. Mohamed FE, et al. Among authors: al jasmi f. Front Pharmacol. 2024 Feb 13;15:1335058. doi: 10.3389/fphar.2024.1335058. eCollection 2024. Front Pharmacol. 2024. PMID: 38414738 Free PMC article. Review.

10

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Mohamed FE, Al-Gazali L, Al-Jasmi F, Ali BR. Mohamed FE, et al. Among authors: al gazali l, al jasmi f. Front Pharmacol. 2017 Jul 7;8:448. doi: 10.3389/fphar.2017.00448. eCollection 2017. Front Pharmacol. 2017. PMID: 28736525 Free PMC article. Review.

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