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Items: 1 to 50 of 82

1.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.

JIMD Rep. 2016;29:39-46. Epub 2015 Nov 29.

2.

Microwave-assisted synthesis and antimicrobial evaluation of novel spiroisoquinoline and spiropyrido[4,3-d]pyrimidine derivatives.

Faty RM, Rashed MS, Youssef MM.

Molecules. 2015 Jan 23;20(2):1842-59. doi: 10.3390/molecules20021842.

3.

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.

4.

Neurologic injury in isolated sulfite oxidase deficiency.

Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA.

Can J Neurol Sci. 2014 Jan;41(1):42-8.

PMID:
24384336
5.

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency.

Salih MA, Bosley TM, Alorainy IA, Sabry MA, Rashed MS, Al-Yamani EA, El-Akoum S, Mohamed SH, Abu-Amero KK, Hellani AM.

Can J Neurol Sci. 2013 Jan;40(1):109-12. No abstract available.

PMID:
23250141
6.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

van Kuilenburg AB, Dobritzsch D, Meijer J, Krumpel M, Selim LA, Rashed MS, Assmann B, Meinsma R, Lohkamp B, Ito T, Abeling NG, Saito K, Eto K, Smitka M, Engvall M, Zhang C, Xu W, Zoetekouw L, Hennekam RC.

Biochim Biophys Acta. 2012 Jul;1822(7):1096-108. doi: 10.1016/j.bbadis.2012.04.001. Epub 2012 Apr 14.

7.

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

Imtiaz F, Rashed MS, Al-Mubarak B, Allam R, El-Karaksy H, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Meyer BF, Al-Sayed M.

Mol Genet Metab. 2011 Dec;104(4):688-90. doi: 10.1016/j.ymgme.2011.06.019. Epub 2011 Jun 30.

PMID:
21764616
8.

Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.

El-Karaksy H, Fahmy M, El-Raziky M, El-Koofy N, El-Sayed R, Rashed MS, El-Kiki H, El-Hennawy A, Mohsen N.

World J Pediatr. 2011 Aug;7(3):224-31. doi: 10.1007/s12519-011-0287-3. Epub 2011 Jun 1.

PMID:
21633861
9.

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
10.

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22.

PMID:
20567907
11.

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

Imtiaz F, Al-Sayed M, Trabzuni D, Al-Mubarak BR, Alsmadi O, Rashed MS, Meyer BF.

BMC Res Notes. 2010 Mar 18;3:79. doi: 10.1186/1756-0500-3-79.

12.

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
13.

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
14.

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.

15.

Carnitine deficiency and L-carnitine supplementation in lysinuric protein intolerance.

Tanner LM, Näntö-Salonen K, Rashed MS, Kotilainen S, Aalto M, Venetoklis J, Niinikoski H, Huoponen K, Simell O.

Metabolism. 2008 Apr;57(4):549-54. doi: 10.1016/j.metabol.2007.11.019.

PMID:
18328359
16.

Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture.

Enattah NS, Jensen TG, Nielsen M, Lewinski R, Kuokkanen M, Rasinpera H, El-Shanti H, Seo JK, Alifrangis M, Khalil IF, Natah A, Ali A, Natah S, Comas D, Mehdi SQ, Groop L, Vestergaard EM, Imtiaz F, Rashed MS, Meyer B, Troelsen J, Peltonen L.

Am J Hum Genet. 2008 Jan;82(1):57-72. doi: 10.1016/j.ajhg.2007.09.012.

17.

The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population.

Imtiaz F, Savilahti E, Sarnesto A, Trabzuni D, Al-Kahtani K, Kagevi I, Rashed MS, Meyer BF, Järvelä I.

J Med Genet. 2007 Oct;44(10):e89.

18.

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
20.

Newborn screening: experiences in the Middle East and North Africa.

Saadallah AA, Rashed MS.

J Inherit Metab Dis. 2007 Aug;30(4):482-9. Epub 2007 Aug 15.

PMID:
17701444
21.

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
22.

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
23.

Heart failure in a patient with methylmalonic acidemia.

Azar MR, Shakiba M, Tafreshi RI, Rashed MS.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):188. Epub 2007 Jun 25. No abstract available.

PMID:
17591451
24.

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
25.

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
26.

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
27.

Alkaptonuria: Case report and review of the literature.

Al Essa M, Al-Shamsan L, Rashed MS, Ozand PT.

Ann Saudi Med. 1998;18(5):442-4. No abstract available.

28.

Glutaric acidemia type 1: First Saudi patient diagnosed by tandem mass spectrometry-based neonatal screening.

Soufi S, Rashed MS, Al Essa M, Bucknall MP, Refi A, Badaghesh F, Habib HS, Ozand PT.

Ann Saudi Med. 1998 Mar-Apr;18(2):160-3. No abstract available.

29.

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

Al-Sayed M, Imtiaz F, Alsmadi OA, Rashed MS, Meyer BF.

BMC Med Genet. 2006 Dec 16;7:86.

30.

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
31.

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
32.

LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants.

Alsmadi O, Alkayal F, Al-Sayed M, Rashed MS, Imtiaz F, Meyer BF.

Clin Chem. 2006 Jul;52(7):1439-40. No abstract available.

33.

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS, Imtiaz F, Meyer BF.

J Inherit Metab Dis. 2005;28(6):877-83.

PMID:
16435180
34.

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
35.

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
36.

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
37.

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
38.

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
39.

Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

Seidahmed MZ, Alyamani EA, Rashed MS, Saadallah AA, Abdelbasit OB, Shaheed MM, Rasheed A, Hamid FA, Sabry MA.

Am J Med Genet A. 2005 Jul 15;136(2):205-9.

PMID:
15952210
40.

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.

Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY, Al Amoudi M, Al-Sayed MM, Rahbeeni Z, Al-Hassnan Z, Al-Dbaas A, Al-Owain M, Ni Luanaigh M.

Anal Biochem. 2005 Apr 15;339(2):310-7.

PMID:
15797572
41.

An inborn error of metabolism presenting as hypoxic-ischemic insult.

Eyaid WM, Al-Nouri DM, Rashed MS, Al-Rifai MT, Al-Wakeel AS.

Pediatr Neurol. 2005 Feb;32(2):134-6.

PMID:
15664777
42.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Rashed MS, Saadallah AA, Rahbeeni Z, Eyaid W, Seidahmed MZ, Al-Shahwan S, Salih MA, Osman ME, Al-Amoudi M, Al-Ahaidib L, Jacob M.

Biomed Chromatogr. 2005 Apr;19(3):223-30.

PMID:
15558695
43.

Diagnosis of methylmalonic acidemia from dried blood spots by HPLC and intramolecular-excimer fluorescence derivatization.

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

Clin Chem. 2005 Jan;51(1):235-7. Epub 2004 Oct 28. No abstract available.

44.
45.

Rapid determination of orotic acid in urine by liquid chromatography-electrospray tandem mass spectrometry.

Rashed MS, Jacob M, Al-Amoudi M, Rahbeeni Z, Al-Sayed MA, Al-Ahaidib L, Saadallah AA, Legaspi S.

Clin Chem. 2003 Mar;49(3):499-501. No abstract available.

46.

Goldenhar syndrome and hereditary tyrosinemia type 1.

Al-Sayed MA, Asmari AM, Rashed MS.

Saudi Med J. 2002 Dec;23(12):1527-31.

PMID:
12518207
47.

Goldenhar syndrome and hereditary tyrosinemia type 1.

Al-Sayed MA, Al-Asmari AM, Rashed MS.

Neurosciences (Riyadh). 2003 Jan;8(1):55-9.

PMID:
23648989
48.

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS.

J Inherit Metab Dis. 2002 Sep;25(5):363-9.

PMID:
12408185
49.

Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response.

al-Essa MA, Rashed MS, Ozand PT.

East Mediterr Health J. 1999 Nov;5(6):1204-7.

50.

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