Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS von Al-Dirbashi, Osama Y., Rashed, Mohamed S., Jacob, Minnie, Al-Ahaideb, Lujane Y., Al-Amoudi, Mohamed, Rahbeeni, Zuhair, Al-Sayed, Moeen M., Al-Hassnan, Zuhair, Al-Owain, Mohamed, Al-Zeidan, Hamad

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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency von Wong, Sunnie Yan-Wai, BA, Beamer, Lesa J., PhD, Gadomski, Therese, BS, Honzik, Tomas, MD, PhD, Mohamed, Miski, MD, PhD, Wortmann, Saskia B., MD, PhD, Brocke Holmefjord, Katja S., MD, Mork, Marit, MD, Bowling, Francis, MD, PhD, Sykut-Cegielska, Jolanta, MD, PhD, Koch, Dieter, MD, Ackermann, Amanda, MD, PhD, Stanley, Charles A., MD, Rymen, Daisy, MD, PhD, Zeharia, Avraham, MD, Al-Sayed, Moeen, MD, Marquardt, Thomas, MD, Jaeken, Jaak, MD, PhD, Lefeber, Dirk, PhD, Conrad, Donald F., PhD, Kozicz, Tamas, MD, PhD, Morava, Eva, MD, PhD

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Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications von Al-Hassnan, Zuhair N., Imtiaz, Faiqa, Al-Amoudi, Mohamed, Rahbeeni, Zuhair, Al-Sayed, Moeen, Al-Owain, Mohammed, Al-Zaidan, Hamad, Al-Odaib, Ali, Rashed, Mohamed S.

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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII von Kaya, Namik, Aldhalaan, Hesham, Al-Younes, Banan, Colak, Dilek, Shuaib, Taghreed, Al-Mohaileb, Fahad, Al-Sugair, Abdulaziz, Nester, Michael, Al-Yamani, Suad, Al-Bakheet, Albandary, Al-Hashmi, Nadia, Al-Sayed, Moeen, Meyer, Brian, Jungbluth, Heinz, Al-Owain, Mohammed

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Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype von Altassan, Ruqaiah, Saud, Haya Al, Masoodi, Tariq Ahmad, Dosssari, Haya Al, Khalifa, Ola, Al‐Zaidan, Hamad, Sakati, Nadia, Rhabeeni, Zuhair, Al‐Hassnan, Zuhair, Binamer, Yousef, Alhashemi, Nadia, Wade, William, Al‐Zayed, Zayed, Al‐Sayed, Moeen, Al‐Muhaizea, Mohamed A., Meyer, Brian, Al‐Owain, Mohammad, Wakil, Salma M.

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Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry von Al-Dirbashi, Osama Y., Rashed, Mohamed S., Brink, Herman J. Ten, Jakobs, Cornelis, Filimban, Najlaa, Al-Ahaidib, Lujane Y., Jacob, Minnie, Al-Sayed, Moeen M., Al-Hassnan, Zuhair, Faqeih, Eissa

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GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening von Kaya, Namik, Owain, Mohammad Al, AbuDheim, Nada, Zahrani, Jawaher Al, Colak, Dilek, Sayed, Moeen Al, Milanlioglu, Aysel, Ozand, Pinar T., Alkuraya, Fowzan S.

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

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Clinical and biochemical features associated with BCS1L mutation von Al-Owain, Mohammed, Colak, Dilek, Albakheet, Albandary, Al-Younes, Banan, Al-Humaidi, Zainab, Al-Sayed, Moeen, Al-Hindi, Hindi, Al-Sugair, Abdulaziz, Al-Muhaideb, Ahmed, Rahbeeni, Zuhair, Al-Sehli, Abdullah, Al-Fadhli, Fatima, Ozand, Pinar T., Taylor, Robert W., Kaya, Namik

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Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia von Rashed, Mohamed S., Al-Ahaidib, Lujane Y., Al-Dirbashi, Osama Y., Al Amoudi, Mohammad, Al-Sayed, Moeen M.A., Rahbeeni, Zuhair, Al-Hassnan, Zuhair, Al-Dbaas, Abeer, Al-Owain, Mohamed, Luanaigh, Michelle Ni

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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients von Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen

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Agreement within couples on choosing preimplantation genetic diagnosis versus pre-natal diagnosis: perspective from Saudi population von Harthi, Fawz, Al-Sayed, Moeen, Yaqinuddin, Ahmed, Karbani, Gulsan, Blobaid, Ameera, Wahi, Monika

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Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin von Imtiaz, Faiqa, Rashed, Mohamed S., Al-Mubarak, Bashayer, Allam, Rabab, El-Karaksy, Hanaa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Meyer, Brian F., Al-Sayed, Moeen

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Rapid determination of orotic acid in urine by liquid chromatography-electrospray tandem mass spectrometry von RASHED, Mohamed S, JACOB, Minnie, AL-AMOUDI, Mohamed, RAHBEENI, Zuhair, AL-SAYED, Moeen A. D, AL-AHAIDIB, Lujane, SAADALLAH, Amal A. A, LEGASPI, Sharon

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Preimplantation genetic diagnosis for Zellweger syndrome von Al-Sayed, Moeen, M.D, Al-Hassan, Saad, M.D, Rashed, Mohamed, Ph.D, Qeba, Meshal, B.Sc, Coskun, Serdar, D.V.M., Ph.D

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Novel mutations underlying argininosuccinic aciduria in Saudi Arabia von Imtiaz, Faiqa, Al-Sayed, Moeen, Trabzuni, Danyah, Al-Mubarak, Bashair R, Alsmadi, Osama, Rashed, Mohamed S, Meyer, Brian F

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Ethical solicitude in medical genetics as perceived from a genetic counselor's perspective in the tribal-based community of Saudi Arabia von Alya Qari, Moeen Al-Sayed, Zuhair Al-Hassnan, Amin Kashmeery

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Ethical solicitude in medical genetics as perceived from a genetic counselor’s perspective in the tribal-based community of Saudi Arabia von Qari, Alya, Al-Sayed, Moeen, Al-Hassnan, Zuhair, Kashmeery, Amin

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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) von Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

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Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases von Imrie, Jackie, Mengel, Karl Eugen, Cassiman, David, Mabe, Paulina, Al-Sayed, Moeen, Bembi, Bruno, Giugliani, Roberto, Packman, Seymour, Schiff, Manuel, Takahashi, Tsutomu, Turkia, Hadhami Ben, Cox, Gerald F.

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