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Items: 1 to 50 of 58

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.

J Mol Neurosci. 2019 Aug 29. doi: 10.1007/s12031-019-01398-6. [Epub ahead of print]

PMID:
31468281
2.

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.

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

3.

Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.

DiBattista A, McIntosh N, Lamoureux M, Al-Dirbashi OY, Chakraborty P, Britz-McKibbin P.

J Proteome Res. 2019 Mar 1;18(3):841-854. doi: 10.1021/acs.jproteome.8b00351. Epub 2019 Jan 7.

PMID:
30507207
4.

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.

Clin Chim Acta. 2018 Dec;487:41-45. doi: 10.1016/j.cca.2018.09.017. Epub 2018 Sep 11.

PMID:
30217751
5.

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.

Brain Dev. 2019 Jan;41(1):57-65. doi: 10.1016/j.braindev.2018.07.015. Epub 2018 Aug 2. Review.

PMID:
30078639
6.

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Fisher L, Davies C, Al-Dirbashi OY, Ten Brink HJ, Chakraborty P, Lepage N.

Clin Biochem. 2018 Apr;54:131-138. doi: 10.1016/j.clinbiochem.2018.01.020. Epub 2018 Feb 2.

7.

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.

Mol Genet Metab. 2018 Mar;123(3):309-316. doi: 10.1016/j.ymgme.2017.12.009. Epub 2017 Dec 12.

PMID:
29269105
8.

Quantification of DNA in Neonatal Dried Blood Spots by Adenine Tandem Mass Spectrometry.

Durie D, Yeh E, McIntosh N, Fisher L, Bulman DE, Birnboim HC, Chakraborty P, Al-Dirbashi OY.

Anal Chem. 2018 Jan 2;90(1):801-806. doi: 10.1021/acs.analchem.7b03265. Epub 2017 Dec 15.

9.

Diet-resistant obesity is characterized by a distinct plasma proteomic signature and impaired muscle fiber metabolism.

Thrush AB, Antoun G, Nikpay M, Patten DA, DeVlugt C, Mauger JF, Beauchamp BL, Lau P, Reshke R, Doucet É, Imbeault P, Boushel R, Gibbings D, Hager J, Valsesia A, Slack RS, Al-Dirbashi OY, Dent R, McPherson R, Harper ME.

Int J Obes (Lond). 2018 Mar;42(3):353-362. doi: 10.1038/ijo.2017.286. Epub 2017 Nov 20.

10.

Temporal Signal Pattern Recognition in Mass Spectrometry: A Method for Rapid Identification and Accurate Quantification of Biomarkers for Inborn Errors of Metabolism with Quality Assurance.

DiBattista A, McIntosh N, Lamoureux M, Al-Dirbashi OY, Chakraborty P, Britz-McKibbin P.

Anal Chem. 2017 Aug 1;89(15):8112-8121. doi: 10.1021/acs.analchem.7b01727. Epub 2017 Jul 11.

PMID:
28648083
11.

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, Aljohery S, Alasmari A, Faqeih E, Alwakeel M, AlMashary M, Almohameed S, Alzahrani M, Migdad A, Al-Dirbashi OY, Rashed M, Alamoudi M, Jacob M, Alahaidib L, El-Badaoui F, Saadallah A, Alsulaiman A, Eyaid W, Al-Odaib A.

J Paediatr Child Health. 2017 Jun;53(6):585-591. doi: 10.1111/jpc.13469. Epub 2017 Mar 24.

PMID:
28337809
12.

Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency.

Ballantyne LL, Sin YY, Al-Dirbashi OY, Li X, Hurlbut DJ, Funk CD.

Mol Genet Metab Rep. 2016 Oct 12;9:54-60. eCollection 2016 Dec.

13.

KATP channel deficiency in mouse FDB causes an impairment of energy metabolism during fatigue.

Scott K, Benkhalti M, Calvert ND, Paquette M, Zhen L, Harper ME, Al-Dirbashi OY, Renaud JM.

Am J Physiol Cell Physiol. 2016 Oct 1;311(4):C559-C571. doi: 10.1152/ajpcell.00137.2015. Epub 2016 Aug 3.

14.

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium, Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA.

JIMD Rep. 2016;30:73-79. Epub 2016 Jun 16.

15.

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

Al-Dirbashi OY, McIntosh N, Chakraborty P.

J Med Screen. 2017 Jun;24(2):58-61. doi: 10.1177/0969141316645824. Epub 2016 May 22.

PMID:
27216769
16.

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA.

Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31.

PMID:
26361991
17.

Undernutrition during pregnancy in mice leads to dysfunctional cardiac muscle respiration in adult offspring.

Beauchamp B, Thrush AB, Quizi J, Antoun G, McIntosh N, Al-Dirbashi OY, Patti ME, Harper ME.

Biosci Rep. 2015 Apr 10;35(3). pii: e00200. doi: 10.1042/BSR20150007.

18.

LKB1 couples glucose metabolism to insulin secretion in mice.

Fu A, Robitaille K, Faubert B, Reeks C, Dai XQ, Hardy AB, Sankar KS, Ogrel S, Al-Dirbashi OY, Rocheleau JV, Wheeler MB, MacDonald PE, Jones R, Screaton RA.

Diabetologia. 2015 Jul;58(7):1513-22. doi: 10.1007/s00125-015-3579-7. Epub 2015 Apr 16.

PMID:
25874445
19.

Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.

Ferrand A, Siu VM, Rupar CA, Napier MP, Al-Dirbashi OY, Chakraborty P, Prasad C.

JIMD Rep. 2015;18:69-77. doi: 10.1007/8904_2014_351. Epub 2014 Oct 12.

20.

Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry.

Al-Dirbashi OY, McIntosh N, McRoberts C, Fisher L, Rashed MS, Makhseed N, Geraghty MT, Santa T, Chakraborty P.

JIMD Rep. 2014;16:65-73. doi: 10.1007/8904_2014_321. Epub 2014 Jul 6.

21.

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium, Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT.

Orphanet J Rare Dis. 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98.

22.

The relationship between vitamin D status and adrenal insufficiency in critically ill children.

McNally JD, Doherty DR, Lawson ML, Al-Dirbashi OY, Chakraborty P, Ramsay T, Menon K.

J Clin Endocrinol Metab. 2013 May;98(5):E877-81. doi: 10.1210/jc.2013-1126. Epub 2013 Apr 1.

PMID:
23547046
23.

Impact of anesthesia and surgery for congenital heart disease on the vitamin d status of infants and children: a prospective longitudinal study.

McNally JD, Menon K, Chakraborty P, Fisher L, Williams KA, Al-Dirbashi OY, Girolamo T, Maharajh G, Doherty DR.

Anesthesiology. 2013 Jul;119(1):71-80. doi: 10.1097/ALN.0b013e31828ce817.

PMID:
23470437
24.

The association of vitamin D status with pediatric critical illness.

McNally JD, Menon K, Chakraborty P, Fisher L, Williams KA, Al-Dirbashi OY, Doherty DR; Canadian Critical Care Trials Group.

Pediatrics. 2012 Sep;130(3):429-36. Epub 2012 Aug 6.

PMID:
22869837
25.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
26.

Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry.

Shih SC, Yang H, Jebrail MJ, Fobel R, McIntosh N, Al-Dirbashi OY, Chakraborty P, Wheeler AR.

Anal Chem. 2012 Apr 17;84(8):3731-8. doi: 10.1021/ac300305s. Epub 2012 Mar 13.

PMID:
22413743
27.

A digital microfluidic method for dried blood spot analysis.

Jebrail MJ, Yang H, Mudrik JM, Lafrenière NM, McRoberts C, Al-Dirbashi OY, Fisher L, Chakraborty P, Wheeler AR.

Lab Chip. 2011 Oct 7;11(19):3218-24. doi: 10.1039/c1lc20524b. Epub 2011 Aug 25.

PMID:
21869989
28.

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.

J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27.

PMID:
20978942
29.

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs.

Shaheen R, Al-Dirbashi OY, Al-Hassnan ZN, Al-Owain M, Makhsheed N, Basheeri F, Seidahmed MZ, Salih MA, Faqih E, Zaidan H, Al-Sayed M, Rahbeeni Z, Al-Sheddi T, Hashem M, Kurdi W, Shimozawa N, Alkuraya FS.

Clin Genet. 2011 Jan;79(1):60-70. doi: 10.1111/j.1399-0004.2010.01498.x.

PMID:
20681997
30.

Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.

Al-Dirbashi OY, Fisher L, McRoberts C, Siriwardena K, Geraghty M, Chakraborty P.

Clin Biochem. 2010 May;43(7-8):691-3. doi: 10.1016/j.clinbiochem.2009.10.004. Epub 2009 Oct 22. No abstract available.

PMID:
19836366
31.

Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS.

Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874.

PMID:
19449432
32.

Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kurdi W, Imtiaz F, Ahmad AM, Al-Sayed M, Tulbah M, Al-Nemer M, Rashed MS.

Prenat Diagn. 2009 May;29(5):477-80. doi: 10.1002/pd.2223.

PMID:
19235826
33.

Synthesis of benzofurazan derivatization reagents for short chain carboxylic acids in liquid chromatography/electrospray ionization-tandem mass spectrometry (LC/ESI-MS/MS).

Santa T, Al-Dirbashi OY, Yoshikado T, Fukushima T, Imai K.

Biomed Chromatogr. 2009 Apr;23(4):443-6. doi: 10.1002/bmc.1124.

PMID:
19016225
34.

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.

Al-Dirbashi OY, Rashed MS, Jacob M, Al-Ahaideb LY, Al-Amoudi M, Rahbeeni Z, Al-Sayed MM, Al-Hassnan Z, Al-Owain M, Al-Zeidan H.

Biomed Chromatogr. 2008 Nov;22(11):1181-5. doi: 10.1002/bmc.1049.

PMID:
18651606
35.

Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders.

Al-Dirbashi OY, Santa T, Rashed MS, Al-Hassnan Z, Shimozawa N, Chedrawi A, Jacob M, Al-Mokhadab M.

J Lipid Res. 2008 Aug;49(8):1855-62. doi: 10.1194/jlr.D800019-JLR200. Epub 2008 Apr 25.

36.
37.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK.

J Neurol Sci. 2008 Jan 15;264(1-2):187-94. Epub 2007 Sep 7.

PMID:
17825324
39.

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.

J Inherit Metab Dis. 2007 Aug;30(4):611. Epub 2007 Aug 15.

PMID:
17701443
40.

Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.

Al-Dirbashi OY, Rashed MS, Al-Qahtani K, Al-Mokhadab MA, Kurdi W, Al-Sayed MA.

J Inherit Metab Dis. 2007 Aug;30(4):612. Epub 2007 Jul 12.

PMID:
17632691
41.

Synthesis of benzofurazan derivatization reagents for carboxylic acids in liquid chromatography/electrospray ionization-tandem mass spectrometry.

Santa T, Al-Dirbashi OY, Ichibangase T, Fukushima T, Rashed MS, Funatsu T, Imai K.

Biomed Chromatogr. 2007 Nov;21(11):1207-13.

PMID:
17590866
42.

Analysis of organic acid markers relevant to inherited metabolic diseases by ultra-performance liquid chromatography/tandem mass spectrometry as benzofurazan derivatives.

Al-Dirbashi OY, Santa T, Al-Qahtani K, Al-Amoudi M, Rashed MS.

Rapid Commun Mass Spectrom. 2007;21(13):1984-90.

PMID:
17526065
43.

Stable isotope dilution analysis of N-acetylaspartic acid in urine by liquid chromatography electrospray ionization tandem mass spectrometry.

Al-Dirbashi OY, Rashed MS, Al-Mokhadab MA, Al-Qahtani K, Al-Sayed MA, Kurdi W.

Biomed Chromatogr. 2007 Sep;21(9):898-902.

PMID:
17441217
44.

Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Al-Hassnan ZN, Rashed MS.

Anal Bioanal Chem. 2006 Dec;386(7-8):2013-7. Epub 2006 Oct 20.

PMID:
17053917
45.

UPLC-MS/MS determination of doxazosine in human plasma.

Al-Dirbashi OY, Aboul-Enein HY, Jacob M, Al-Qahtani K, Rashed MS.

Anal Bioanal Chem. 2006 Aug;385(8):1439-43. Epub 2006 Jul 13.

PMID:
16838158
46.

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Rashed MS, Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM, Al-Hassnan Z, Faqeih E.

J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 2;831(1-2):274-80. Epub 2005 Dec 27.

PMID:
16384749
47.

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.

Al-Dirbashi OY, Jacob M, Al-Ahaidib LY, Al-Qahtani K, Rahbeeni Z, Al-Owain M, Rashed MS.

Clin Chim Acta. 2006 Mar;365(1-2):243-8. Epub 2005 Oct 21.

PMID:
16243307
48.

Rapid liquid chromatography-tandem mass spectrometry method for quantification of ziprasidone in human plasma.

Al-Dirbashi OY, Aboul-Enein HY, Al-Odaib A, Jacob M, Rashed MS.

Biomed Chromatogr. 2006 Apr;20(4):365-8.

PMID:
16167302
49.

Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization.

Al-Dirbashi OY, Jacob M, Al-Amoudi M, Al-Kahtani K, Al-Odaib A, El-Badaoui F, Rashed MS.

Clin Chim Acta. 2005 Sep;359(1-2):179-88.

PMID:
15978564
50.

Determination of methylmalonic acid in urine by HPLC with intramolecular excimer-forming fluorescence derivatization.

Al-Dirbashi OY, Jacob M, Al-Hassnan Z, Chabayta RW, El-Badaoui F, Rashed MS.

Biomed Chromatogr. 2006 Jan;20(1):54-60.

PMID:
15966058

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