Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Fathiya al-Murshedi"'
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 212-225 (2024)
Abstract Background NAXE‐encephalopathy or early‐onset progressive encephalopathy with brain edema and/or leukoencephalopathy‐1 (PEBEL‐1) and NAXD‐encephalopathy (PEBEL‐2) have been described recently as mitochondrial disorders causing ps
Externí odkaz:
https://doaj.org/article/6b3767838cd74006bb7f3cfb1c2b1dea
Autor:
Khalid Al‐Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al‐Habsi, Eiman Al‐Ajmi, Fatma Al‐Jasmi, Fathiya Al‐Murshedi
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 226-232 (2024)
Abstract Carbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no fu
Externí odkaz:
https://doaj.org/article/276964319bbd44d69ab8f78f98a0174e
Autor:
Taolin Yuan, Surinder Kumar, Mary E. Skinner, Ryan Victor-Joseph, Majd Abuaita, Jaap Keijer, Jessica Zhang, Thaddeus J. Kunkel, Yanghan Liu, Elyse M. Petrunak, Thomas L. Saunders, Andrew P. Lieberman, Jeanne A. Stuckey, Nouri Neamati, Fathiya Al-Murshedi, Majid Alfadhel, Johannes N. Spelbrink, Richard Rodenburg, Vincent C.J. de Boer, David B. Lombard
Publikováno v:
iScience, Vol 27, Iss 6, Pp 109991- (2024)
Summary: SIRT5 is a sirtuin deacylase that removes negatively charged lysine modifications, in the mitochondrial matrix and elsewhere in the cell. In benign cells and mouse models, under basal conditions, the phenotypes of SIRT5 deficiency are quite
Externí odkaz:
https://doaj.org/article/1b3e08c25bb044469b8c3e5f02f889fd
Autor:
Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic
Externí odkaz:
https://doaj.org/article/4c46b9ee8ba94f4794bc083e28077f10
Autor:
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. Acc
Externí odkaz:
https://doaj.org/article/9bc418cf35514541a8bc86a2a5233e2d
Autor:
Ghalia Al-Kasbi, Fathiya Al-Murshedi, Adila Al-Kindi, Nadia Al-Hashimi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Abdullah Al-Asmi, Zandre Bruwer, Khalsa Al-Kharusi, Samiya Al-Rashdi, Fahad Zadjali, Said Al-Yahyaee, Almundher Al-Maawali
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past
Externí odkaz:
https://doaj.org/article/97e903173bd84d2a861231bfdf46c280
Publikováno v:
Oman Medical Journal, Vol 31, Iss 3, Pp 227-230 (2016)
Charcot-Marie-Tooth neuropathy type 4B1 (CMT4B1) disease is a rare subtype of CMT4 with reported association of facial weakness, vocal cord paresis, chest deformities, and claw hands. We report the unusual occurrence of optic neuritis and cervical co
Externí odkaz:
https://doaj.org/article/447cd2bb9eac469bb1ef7adccb77835f
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 14, Iss 3, Pp 409-411 (2014)
NA
Externí odkaz:
https://doaj.org/article/59b52c4813cd44daaf971dc2fa68b678
Autor:
Salim Ahmed Al-Busaidi, Jawaher Al Al Nou'mani, Zubaida Al-Falahi, Rajaa Al-Farsi, Suneel Kumar, Fathiya Al-Murshedi, Kathiya Awlad-Thani, Ayda Al Nabhani, Abdullah M. Al Alawi
Publikováno v:
Clinical Biochemistry. 116:16-19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fd841fcd464f36771529dc7a615d9fb
https://doi.org/10.1016/j.clinbiochem.2023.03.005
https://doi.org/10.1016/j.clinbiochem.2023.03.005
Autor:
Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X. Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J. F. Cronin, Maria Novatchkova, Anoop Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V. Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Eric Rullman, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S. Chamberlain, Marica Bakovic, Siddharth Banka, Josef M. Penninger
Publikováno v:
Nature Metabolism. 5:495-515
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da34f24f3940a36e20050423638f3b07
https://doi.org/10.1038/s42255-023-00766-2
https://doi.org/10.1038/s42255-023-00766-2