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Akademický článek

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Autor: Altassan R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Sulaiman RA; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alfalah A; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alwagiat W; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Megdad E; Department of Nutrition, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alqasabi D; Department of Nutrition, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Handoom B; Department of Nutrition, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almesned M; Department of Nutrition, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Amri H; Department of Internal Medicine, King Abdullah Hospital, Bisha, Saudi Arabia., Alhassnan Z; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alsayed MA; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alzaidan H; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rahbeeni Z; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Derar N; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Albanyan E; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: ealbanyan@kfshrc.edu.sa.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Nov; Vol. 65 (11), pp. 104602. Date of Electronic Publication: 2022 Aug 30.

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International practices in the dietary management of fructose 1-6 biphosphatase deficiency

Autor: Pinto, A. Alfadhel, M. Akroyd, R. Altinok, Y. Atik and Bernabei, S. M. Bernstein, L. Bruni, G. Caine, G. and Cameron, E. Carruthers, R. Cochrane, B. Daly, A. de Boer, F. Delaunay, S. Dianin, A. Dixon, M. Drogari, E. and Dubois, S. Evans, S. Gribben, J. Gugelmo, G. and Heidenborg, C. Hunjan, I. Kok, I. L. Kumru, B. Liguori, A. Mayr, D. Megdad, E. Meyer, U. Oliveira, R. B. and Pal, A. Pozzoli, A. Pretese, R. Rocha, J. C. and Rosenbaum-Fabian, S. Serrano-Nieto, J. Sjoqvist, E. Timmer, C. White, L. van den Hurk, T. van Rijn, M. Zweers, H. and Ziadlou, M. MacDonald, A.

Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Although the need for an emergency regimen to avoid metab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::77873929977f27bc151a9e387581c1b8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3178639

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Akademický článek

The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients.

Autor: Handoom B; Nutrition Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Megdad E; Nutrition Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Al-Qasabi D; Nutrition Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Al Mesned M; Nutrition Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Hawary R; Nutrition Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Al-Nufiee S; Medical Genetic Department, Children Hospital Taif, Taif, SA, USA., Al-Hassnan Z; Medical Genetic Deparmant, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Alsayed MD; Medical Genetic Deparmant, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA., Eldali A; Biostatistics Epidemiology & Scientific Computing Department, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, SA, USA.

Publikováno v: International journal of pediatrics & adolescent medicine [Int J Pediatr Adolesc Med] 2018 Jun; Vol. 5 (2), pp. 60-68. Date of Electronic Publication: 2018 Jun 14.

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Akademický článek

Propionic acidemia associated with visual hallucinations.

Autor: Shuaib T; Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia., Al-Hashmi N, Ghaziuddin M, Megdad E, Abebe D, Al-Saif A, Doubi A, Aldhalaan H, Abouzied ME, Al-Owain M

Publikováno v: Journal of child neurology [J Child Neurol] 2012 Jun; Vol. 27 (6), pp. 799-803. Date of Electronic Publication: 2011 Dec 07.

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Akademický článek

Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study.

Autor: Magdy RM; Metabolic and Genetic Unit, Department of Pediatrics, Faculty of Medicine, 68890 Sohag University , Sohag, Egypt., Dolins KR; Teachers College, Columbia University, Research Lead, MSUD Family Support Group, New York, USA., Nagdy H; Department of Pediatrics, Sohag General Hospital, Sohag, Egypt., Ali TM; Department of Public Health and Community Medicine, Faculty of Medicine, Sohag University, Sohag, Egypt., Elabd HS; Department of Medical Genetics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Hassan MA; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Nov 28. Date of Electronic Publication: 2024 Nov 28.

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