SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion
Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
Get full text
Journal Article
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Solano Villarreal, Martha L., Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Berger, Kenneth I., Slasor, Peter, Matousek, Robert, Jurecki, Elaina, Shaywitz, Adam J., Harmatz, Paul R.
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
Get full text
Journal Article
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous population
Albakheet, AlBandary, Almuallami, Duaa, Almass, Rawan, Qari, Alya, Kenana, Rosan, AlQudairy, Hanan, Huma, Rozeena, Binomar, Hadeel, Wakil, Salma Majid, Alowain, Mohammad, Colak, Dilek, Kaya, Namik, AlSayed, Moeenaldeen D
Published in Clinical dysmorphology (01.04.2024)
Published in Clinical dysmorphology (01.04.2024)
Get more information
Journal Article
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
Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona J., Hughes, Derralynn A., Matousek, Robert, Hawley, Sara M., Decker, Celeste, Harmatz, Paul R.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
Get full text
Journal Article
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways
Aldosary, Mazhor, Al-Bakheet, AlBandary, Al-Dhalaan, Hesham, Almass, Rawan, Alsagob, Maysoon, Al-Younes, Banan, AlQuait, Laila, Mustafa, Osama Mufid, Bulbul, Mustafa, Rahbeeni, Zuhair, Alfadhel, Majid, Chedrawi, Aziza, Al-Hassnan, Zuhair, AlDosari, Mohammed, Al-Zaidan, Hamad, Al-Muhaizea, Mohammad A, AlSayed, Moeenaldeen D, Salih, Mustafa A, AlShammari, Mai, Faiyaz-Ul-Haque, Muhammad, Chishti, Mohammad Azhar, Al-Harazi, Olfat, Al-Odaib, Ali, Kaya, Namik, Colak, Dilek
Published in Omics (Larchmont, N.Y.) (01.03.2020)
Published in Omics (Larchmont, N.Y.) (01.03.2020)
Get more information
Journal Article
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome
Hendriksz, Christian J., Berger, Kenneth I., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Matousek, Robert, Jurecki, Elaina, Decker, Celeste, Harmatz, Paul R.
Published in Journal of inherited metabolic disease (01.11.2016)
Published in Journal of inherited metabolic disease (01.11.2016)
Get full text
Journal Article
Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A
Hendriksz, Christian J., Parini, Rossella, AlSayed, Moeenaldeen D., Raiman, Julian, Giugliani, Roberto, Mitchell, John J., Burton, Barbara K., Guelbert, Norberto, Stewart, Fiona, Hughes, Derralynn A., Matousek, Robert, Hawley, Sara M., Decker, Celeste, Harmatz, Paul R.
Published in Molecular genetics and metabolism (01.01.2017)
Published in Molecular genetics and metabolism (01.01.2017)
Get full text
Journal Article