Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Khalid Al Thihli"'
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:
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:
Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi
Publikováno v:
JCRPE, Vol 15, Iss 3, Pp 302-306 (2023)
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple
Externí odkaz:
https://doaj.org/article/b93e38432f414d1fa2dbedc976e80aa5
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 37, Iss 5, Pp e426-e426 (2022)
Objectives: To establish a reference range for acylcarnitines (ACs) and amino acids (AAs) concentrations in dried blood spot (DBS) samples of Omani neonates to detect inborn errors of metabolism (IEM), and to evaluate the effect of age and sex on ACs
Externí odkaz:
https://doaj.org/article/78d6540345a444c5ad0ef8d2322af930
Autor:
Mohamed Al-Abri, Ahmed Al-Hinai, Sana Al Zuhaibi, Anuradha Ganesh, Alyaqdhan Al Ghafri, Khalid Al-Thihli
Publikováno v:
Oman Journal of Ophthalmology, Vol 12, Iss 1, Pp 37-41 (2019)
Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old
Externí odkaz:
https://doaj.org/article/33d1569fd4aa4dce8b86cd5a88ac57d6
Publikováno v:
Journal of Neuromuscular Diseases. 10:293-299
Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::527189a3af55f88b07e9029fca775b9b
https://doi.org/10.3233/jnd-221520
https://doi.org/10.3233/jnd-221520
Autor:
Luisa Averdunk, Khalid Al‐Thihli, Harald Surowy, Hermann‐Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al‐Maawali, Dagmar Wieczorek
Publikováno v:
Clinical Genetics. 103:484-491
Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl-tRNA to the ribosome, while the eEF1B c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fc8408e7430961b4e4d7e59ead5b2e3
https://doi.org/10.1111/cge.14290
https://doi.org/10.1111/cge.14290
Autor:
Fatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, Amal M Al Teneiji, Jozef Hertecant, Ayman W El-Hattab
Publikováno v:
Journal of Central Nervous System Disease, Vol 12 (2020)
Background: In addition to the reduced energy production, characteristic of mitochondrial disorders, nitric oxide (NO) deficiency can occur as well. The NO produced by vascular endothelial cells relaxes vascular smooth muscles, resulting in vasodilat
Externí odkaz:
https://doaj.org/article/61e111bc78bd4fd5b274a8c3c311dfeb