Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Sarar, Mohamed"'
Autor:
Abdullah Al-Shamrani, Khalid Al-Shamrani, Ahmed Bin Mahfoudh, Ahmed Sarar Mohamed, Sarar Mohamed
Publikováno v:
Children, Vol 9, Iss 12, p 1811 (2022)
Niemann–Pick disease type C (NPC) is an autosomal recessive lipid storage disorder. There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases. Niemann–Pick disease type
Externí odkaz:
https://doaj.org/article/019ad883ce074767a19b65d07ef2faca
Autor:
Sarar Mohamed, Wafa Ahmed, Nasir Al-Jurayyan, Eisa Faqeih, Abdulrahman Al-Nemri, Mohamed Al-Ghamdi
Publikováno v:
Pediatrics and Neonatology, Vol 58, Iss 1, Pp 77-80 (2017)
Infantile systemic hyalinosis (ISH) is a rare multisystem fatal autosomal recessive disorder that involves widespread deposition of hyaline on connective tissues and certain internal organs. The major manifestations include painful articular contract
Externí odkaz:
https://doaj.org/article/8ed094efe9024e399e9f18ff218940b3
Publikováno v:
Neurosciences. 27:45-49
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68a97a0561a9fe29daa87ad32b595899
https://doi.org/10.17712/nsj.2022.1.20210681
https://doi.org/10.17712/nsj.2022.1.20210681
Publikováno v:
Pediatrics and Neonatology, Vol 56, Iss 6, Pp 393-401 (2015)
Data on the pattern of epilepsy caused by metabolic disorders in the first 2 years of life are limited in developing countries. We aimed to identify the metabolic causes of epilepsy presented in the first 2 years of life and to describe their clinica
Externí odkaz:
https://doaj.org/article/c2ae704037d84f878bbe32aa8cce45c0
Publikováno v:
Saudi Medical Journal, Vol 41, Iss 2, Pp 199-202 (2020)
Objectives: To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f37f6d4fcc663b8dafc0dc309a95e6
https://smj.org.sa/index.php/smj/article/view/smj.2020.2.24885/11886
https://smj.org.sa/index.php/smj/article/view/smj.2020.2.24885/11886
Autor:
Karimeldin Mohamed Ali Salih, Mohammed Abbas, Muddathir H Hamad, Hiba Karimeldin Mohamed, Sarar Mohamed
Publikováno v:
Pakistan Journal of Medical and Health Sciences. 16:394-396
Introduction: Childhood enuresis is a stressful condition for both family members and patients. Different strategies can be offered to manage this condition with variable success rates. Data on the treatment of enuresis are scarce Sudan. We compared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::372c725b813e78da3f31f9163d5665ae
https://doi.org/10.53350/pjmhs22161394
https://doi.org/10.53350/pjmhs22161394
Publikováno v:
Annals of Saudi Medicine, Vol 34, Iss 3, Pp 217-221 (2014)
BACKGROUND AND OBJECTIVES: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown, and data on molecular etiology of this condition is limited. Therefore, the present study was undertaken to elucidate clinic
Externí odkaz:
https://doaj.org/article/3209e3b0d4d841659f007eb9455832d9
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study
Autor:
Sulaiman A. AlMohaimeed, Amer N. Ammari, Maher Almashary, Lujane Alahaideb, Amal Alhashem, Fahad M. Alharbi, Horia AlMalawi, Aida I. Al-Aqeel, Wafa Elsheikh, Sarar Mohamed, Ali Al-Odaib
Publikováno v:
Saudi Medical Journal, Vol 41, Iss 7, Pp 703-708 (2020)
Objectives: To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program. Methods: This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to Decemb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8996ee55aa8368dfa7c3f2468a31b03
https://smj.org.sa/index.php/smj/article/view/smj.2020.7.25147/12069
https://smj.org.sa/index.php/smj/article/view/smj.2020.7.25147/12069
Publikováno v:
Saudi Medical Journal, Vol 41, Iss 6, Pp 590-596 (2020)
Objectives: To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728ea0b2e0f990edd01ca563e575a204
https://smj.org.sa/index.php/smj/article/view/smj.2020.6.25131/12025
https://smj.org.sa/index.php/smj/article/view/smj.2020.6.25131/12025
Autor:
Norah, Alsaleh, Amal, Alhashem, Brahim, Tabarki, Sarar, Mohamed, Essa, Alharby, Fowzan S, Alkuraya, Naif A M, Almontashiri
Publikováno v:
Neurology. Genetics. 8(4)
Our objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation.A neurologic evaluation was performed, and DNA samples were obtained from the affected siblings and parents to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::65ec025e5c684423b6d61fcebabcb45f
https://pubmed.ncbi.nlm.nih.gov/35821753
https://pubmed.ncbi.nlm.nih.gov/35821753