Al-Shamsi A - Search Results

1

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. Sci Rep. 2019 Aug 26;9(1):12366. doi: 10.1038/s41598-019-48885-9. Sci Rep. 2019. PMID: 31451751 Free PMC article.

2

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L. Akawi NA, et al. Orphanet J Rare Dis. 2013 Jun 17;8:87. doi: 10.1186/1750-1172-8-87. Orphanet J Rare Dis. 2013. PMID: 23773660 Free PMC article.

3

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24014090

4

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid AK, Al-Jasmi F. Al-Shamsi A, et al. Sultan Qaboos Univ Med J. 2014 Feb;14(1):e42-9. doi: 10.12816/0003335. Epub 2014 Jan 27. Sultan Qaboos Univ Med J. 2014. PMID: 24516753 Free PMC article.

5

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. Ben-Salem S, et al. Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17. Metab Brain Dis. 2015. PMID: 25227173 Free PMC article.

6

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Baertling F, et al. Hum Mutat. 2015 Jan;36(1):34-8. doi: 10.1002/humu.22715. Epub 2014 Nov 18. Hum Mutat. 2015. PMID: 25339201

7

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. Al-Shamsi AM, et al. Eur J Pediatr. 2015 May;174(5):661-8. doi: 10.1007/s00431-014-2449-5. Epub 2014 Nov 12. Eur J Pediatr. 2015. PMID: 25388407

8

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Al-Jasmi FA, Al-Shamsi A, Hertecant JL, Al-Hamad SM, Souid AK. Al-Jasmi FA, et al. JIMD Rep. 2016;28:127-135. doi: 10.1007/8904_2015_512. Epub 2015 Nov 21. JIMD Rep. 2016. PMID: 26589311 Free PMC article.

9

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.

Al-Shamsi A, Baker A, Dhawan A, Hertecant J. Al-Shamsi A, et al. JIMD Rep. 2016;30:59-62. doi: 10.1007/8904_2016_532. Epub 2016 Apr 28. JIMD Rep. 2016. PMID: 27117295 Free PMC article.

10

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA. Al-Shamsi A, et al. Orphanet J Rare Dis. 2016 Jul 8;11(1):94. doi: 10.1186/s13023-016-0474-3. Orphanet J Rare Dis. 2016. PMID: 27391121 Free PMC article.

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