El-Hattab AW - Search Results

1

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.

Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Glinton KE, et al. Mol Genet Metab. 2018 Mar;123(3):309-316. doi: 10.1016/j.ymgme.2017.12.009. Epub 2017 Dec 12. Mol Genet Metab. 2018. PMID: 29269105

2

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Arora V, Khan S, El-Hattab AW, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC. Arora V, et al. J Am Soc Nephrol. 2021 Jan;32(1):223-228. doi: 10.1681/ASN.2020040478. Epub 2020 Oct 5. J Am Soc Nephrol. 2021. PMID: 33020172 Free PMC article.

3

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.

Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VR. Fruhman G, et al. Am J Med Genet A. 2011 Feb;155A(2):434-8. doi: 10.1002/ajmg.a.33792. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271668 No abstract available.

4

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2012 Apr;105(4):607-14. doi: 10.1016/j.ymgme.2012.01.016. Epub 2012 Jan 24. Mol Genet Metab. 2012. PMID: 22325939 Free PMC article.

5

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

El-Hattab AW, Adesina AM, Jones J, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15. Mol Genet Metab. 2015. PMID: 26095523 Review.

6

Disorders of carnitine biosynthesis and transport.

El-Hattab AW, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Nov;116(3):107-12. doi: 10.1016/j.ymgme.2015.09.004. Epub 2015 Sep 10. Mol Genet Metab. 2015. PMID: 26385306 Review.

7

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2016 Apr;117(4):407-12. doi: 10.1016/j.ymgme.2016.01.010. Epub 2016 Jan 27. Mol Genet Metab. 2016. PMID: 26851065 Free PMC article.

8

On the phenotypic spectrum of serine biosynthesis defects.

El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS. El-Hattab AW, et al. J Inherit Metab Dis. 2016 May;39(3):373-381. doi: 10.1007/s10545-016-9921-5. Epub 2016 Mar 10. J Inherit Metab Dis. 2016. PMID: 26960553

9

Serine biosynthesis and transport defects.

El-Hattab AW. El-Hattab AW. Mol Genet Metab. 2016 Jul;118(3):153-159. doi: 10.1016/j.ymgme.2016.04.010. Epub 2016 Apr 22. Mol Genet Metab. 2016. PMID: 27161889 Review.

10

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Al Kaabi EH, El-Hattab AW. Al Kaabi EH, et al. Mol Genet Metab Rep. 2016 Aug 17;8:94-8. doi: 10.1016/j.ymgmr.2016.08.004. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27570737 Free PMC article.

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