Al-Dirbashi OY - Search Results

1

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 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

2

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Gazali L, Al-Dirbashi O, Al-Jasmi F, Ali BR. Mohamed FE, et al. Hum Genet. 2020 May;139(5):657-673. doi: 10.1007/s00439-020-02153-3. Epub 2020 Mar 26. Hum Genet. 2020. PMID: 32219518

3

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.

Zaabi NA, Kendi A, Al-Jasmi F, Takashima S, Shimozawa N, Al-Dirbashi OY. Zaabi NA, et al. Among authors: al dirbashi oy. Brain Dev. 2019 Jan;41(1):57-65. doi: 10.1016/j.braindev.2018.07.015. Epub 2018 Aug 2. Brain Dev. 2019. PMID: 30078639 Review.

4

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.

5

Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias.

Al Dhahouri N, Langhans CD, Al Hammadi Z, Okun JG, Hoffmann GF, Al-Jasmi F, Al-Dirbashi OY. Al Dhahouri N, et al. Among authors: al dirbashi oy. Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11. Clin Chim Acta. 2018. PMID: 30217751

6

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. Among authors: al dirbashi oy. 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

7

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Waters PJ, Kitzler TM, Feigenbaum A, Geraghty MT, Al-Dirbashi O, Bherer P, Auray-Blais C, Gravel S, McIntosh N, Siriwardena K, Trakadis Y, Brunel-Guitton C, Al-Hertani W. Waters PJ, et al. JIMD Rep. 2018;39:89-96. doi: 10.1007/8904_2017_49. Epub 2017 Aug 2. JIMD Rep. 2018. PMID: 28766179 Free PMC article.

8

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P. Al-Dirbashi OY, et al. J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978942

9

Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.

Al-Dirbashi OY, McIntosh N, Chakraborty P. Al-Dirbashi OY, et al. J Med Screen. 2017 Jun;24(2):58-61. doi: 10.1177/0969141316645824. Epub 2016 May 22. J Med Screen. 2017. PMID: 27216769

10

LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.

Al-Dirbashi OY, Abu-Amero KK, Alswaid AF, Hoffmann GF, Al-Qahtani K, Rashed MS. Al-Dirbashi OY, et al. J Inherit Metab Dis. 2007 Aug;30(4):611. doi: 10.1007/s10545-007-0670-3. Epub 2007 Aug 15. J Inherit Metab Dis. 2007. PMID: 17701443

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