Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Khalid Al Thihli"'
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
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
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
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
Autor:
Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami, Fahad Zadjali
Publikováno v:
Genes, Vol 13, Iss 2, p 248 (2022)
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor de
Externí odkaz:
https://doaj.org/article/9049671a73794e7b885df5b25e0db9f8
Autor:
Abdulhamid Al‐Hinai, Samiya Al‐Hashmi, Anuradha Ganesh, Nadia Al‐Hashmi, Abeer Al‐Saegh, Watfa Al‐Mamari, Fathiya Al‐Murshedi, Khalid Al‐Thihli, Adila Al‐Kindi, Almundher Al‐Maawali
Publikováno v:
American Journal of Medical Genetics Part A. 188:2485-2490
Publikováno v:
Sultan Qaboos University Medical Journal, Vol 17, Iss 3, Pp 355-357 (2017)
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We
Externí odkaz:
https://doaj.org/article/55d726d1f9ca45849e599eb96bbc87db
Publikováno v:
Sultan Qaboos University Medical Journal [SQUMJ]. 21:648-651
Propionic acidaemia (PPA) is a disorder of amino acid and odd-chain fatty acid metabolism. Hypoglycaemia is a more commonly described finding rather than hyperglycaemia during metabolic decompensation of PPA. There is a high mortality rate in patient