Publications by authors named "Moeenaldeen D Al-Sayed"

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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.
Hanan AlQudairy, Mohammad A AlMuhaizea, Mohamed Tohary, Maissa Alfuraih, Aisha Alnafisah

Orphanet J Rare Dis· August 2025

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Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population.
AlBandary Albakheet, Duaa Almuallami, Rawan Almass, Alya Qari, Rosan Kenana

Clin Dysmorphol· April 2024

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SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob

JIMD Rep· July 2021

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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Mazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, Rawan Almass, Maysoon Alsagob

OMICS· March 2020

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li

Nat Commun· January 2020

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Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani

Mol Genet Metab· February 2018

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Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
Christian J Hendriksz, Kenneth I Berger, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman

J Inherit Metab Dis· November 2016

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Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani

Mol Genet Metab· September 2016

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Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
Muhammad Faiyaz-Ul-Haque, Moeenaldeen D Al-Sayed, Eissa Faqeih, Masood Jamil, Anjum Saeed

Ann Saudi Med· November 2015

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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Christian J Hendriksz, Roberto Giugliani, Paul Harmatz, Eugen Mengel, Nathalie Guffon, Moeenaldeen D Al-Sayed

Mol Genet Metab· February 2015

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The development of genetic counseling services and training program in Saudi Arabia.
Alya A Qari, Ameera S Balobaid, Rifaat R Rawashdeh, Moeenaldeen D Al-Sayed

J Genet Couns· December 2013

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Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Moeenaldeen D Al-Sayed, Hamad Al-Zaidan, Albandary Albakheet, Hana Hakami, Rosan Kenana

Am J Hum Genet· October 2013

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