Publications by authors named "Moeen Alsayed"

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Clinical, radiological, and genetic characterization of variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
Hanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, Nouf AlMutairi, Maha AlNakiyah, Moeen AlSayed

Front Pediatr· February 2023

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Emergency management of critically ill adult patients with inherited metabolic disorders.
Raashda A Sulaiman, Abdulaziz Alali, Sulaiman Hosaini, Maged Hussein, Farooq Pasha, Moeen AlSayed

Am J Emerg Med· May 2022

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Moeen Alsayed

Am J Hum Genet· October 2019

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Optic neuropathy in classical methylmalonic acidemia.
Mohammed AlOwain, Ola Ali Khalifa, Zahra Al Sahlawi, Maged H Hussein, Raashda A Sulaiman

Ophthalmic Genet· August 2019

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Moeen Alsayed

Am J Hum Genet· June 2019

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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Zuhair N Al-Hassnan, Ola A Khalifa, Dalal K Bubshait, Sahar Tulbah, Maarab Alkorashy

Mol Genet Metab Rep· June 2018

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Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
Nasir A Bakshi, Talal Al-Anzi, Said Y Mohamed, Zuhair Rahbeeni, Moeen AlSayed

Am J Med Genet A· March 2018

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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Ruqaiah Altassan, Haya Al Saud, Tariq Ahmad Masoodi, Haya Al Dosssari, Ola Khalifa

Am J Med Genet A· April 2017

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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, Tomas Honzik, Miski Mohamed

J Pediatr· August 2016

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Clinical and biochemical features associated with BCS1L mutation.
Mohammed Al-Owain, Dilek Colak, Albandary Albakheet, Banan Al-Younes, Zainab Al-Humaidi

J Inherit Metab Dis· September 2013

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In search of triallelism in Bardet-Biedl syndrome.
Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Moeen Alsayed

Eur J Hum Genet· April 2012

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Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
Faiqa Imtiaz, Mohamed S Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy

Mol Genet Metab· December 2011

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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Namik Kaya, Hesham Aldhalaan, Banan Al-Younes, Dilek Colak, Taghreed Shuaib

Am J Med Genet B Neuropsychiatr Genet· December 2011

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Early access experience with VPRIV(®): recommendations for 'core data' collection.
Derralynn A Hughes, Moeen Al-Sayed, Nadia Belmatoug, Olaf Bodamer, Tobias Böttcher

Blood Cells Mol Dis· August 2011

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GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Namik Kaya, Mohammad Al-Owain, Nada Abudheim, Jawaher Al-Zahrani, Dilek Colak

Am J Med Genet A· June 2011

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Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Zuhair N Al-Hassnan, Faiqa Imtiaz, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen Al-Sayed

J Inherit Metab Dis· December 2010

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
Faiqa Imtiaz, Moeen Al-Sayed, Danyah Trabzuni, Bashair R Al-Mubarak, Osama Alsmadi

BMC Res Notes· March 2010

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Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Muhammad Faiyaz-Ul-Haque, Mohammed Al-Owain, Fouad Al-Dayel, Zuhair Al-Hassnan, Hamad Al-Zaidan

Eur J Pediatr· December 2009

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Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
Osama Y Al-Dirbashi, Mohamed S Rashed, Minnie Jacob, Lujane Y Al-Ahaideb, Mohamed Al-Amoudi

Biomed Chromatogr· November 2008

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Stable isotope dilution analysis of N-acetylaspartic acid in urine by liquid chromatography electrospray ionization tandem mass spectrometry.
Osama Y Al-Dirbashi, Mohamed S Rashed, Manhal A Al-Mokhadab, Khalid Al-Qahtani, Moeen A A Al-Sayed

Biomed Chromatogr· September 2007

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Preimplantation genetic diagnosis for Zellweger syndrome.
Moeen Al-Sayed, Saad Al-Hassan, Mohamed Rashed, Meshal Qeba, Serdar Coskun

Fertil Steril· June 2007

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Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.
Osama Y Al-Dirbashi, Mohamed S Rashed, Herman J Ten Brink, Cornelis Jakobs, Najlaa Filimban

J Chromatogr B Analyt Technol Biomed Life Sci· February 2006

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Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia.
Mohamed S Rashed, Lujane Y Al-Ahaidib, Osama Y Al-Dirbashi, Mohammad Al Amoudi, Moeen M A Al-Sayed

Anal Biochem· April 2005

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Rapid determination of orotic acid in urine by liquid chromatography-electrospray tandem mass spectrometry.
Mohamed S Rashed, Minnie Jacob, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen A D Al-Sayed

Clin Chem· March 2003

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Goldenhar syndrome and hereditary tyrosinemia type 1.
Moeen A Al-Sayed, Ali M Asmari, Mohammed S Rashed

Saudi Med J· December 2002

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