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Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

dc.contributor.authorAlghamdi, Malak
dc.contributor.authorAlkhamis, Waleed H.
dc.contributor.authorJamjoom, Dima Z.
dc.contributor.authorAl Khalifah, Reem
dc.contributor.authorAlshammari, Nawaf Rahi
dc.contributor.authorAlsumaili, Khalid
dc.contributor.authorArold, Stefan T.
dc.date.accessioned2020-11-17T05:42:45Z
dc.date.available2020-11-17T05:42:45Z
dc.date.issued2020-11-11
dc.date.submitted2020-02-29
dc.identifier.citationAlghamdi, M. A., Alkhamis, W. H., Jamjoom, D. Z., Al Khalifah, R., Alshammari, N. R., Alsumaili, K., & Arold, S. T. (2020). Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism. Clinical Case Reports. doi:10.1002/ccr3.3504
dc.identifier.issn2050-0904
dc.identifier.issn2050-0904
dc.identifier.doi10.1002/ccr3.3504
dc.identifier.urihttp://hdl.handle.net/10754/665985
dc.description.abstractCentral hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy.
dc.description.sponsorshipOur family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.
dc.publisherWiley
dc.relation.urlhttps://onlinelibrary.wiley.com/doi/10.1002/ccr3.3504
dc.rightsThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleSuccinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
dc.contributor.departmentStructural Biology and Engineering
dc.identifier.journalClinical Case Reports
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionMedical Genetics Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia
dc.contributor.institutionMedical Genetics Division Department of Pediatrics King Saud University Medical city Riyadh Saudi Arabia
dc.contributor.institutionDepartment of Obstetrics and Gynecology King Saud University Medical City Riyadh Saudi Arabia
dc.contributor.institutionDepartment of Radiology and Medical Imaging College of Medicine King Saud University Riyadh Saudi Arabia
dc.contributor.institutionPediatric Endocrinology Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia
dc.contributor.institutionDepartment of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia
dc.contributor.institutionBiochemical Genetic Division Department of Pathology College of Medicine King Saud University Riyadh Saudi Arabia
kaust.personArold, Stefan T.
dc.date.accepted2020-10-29
refterms.dateFOA2020-11-17T05:46:41Z
dc.date.published-online2020-11-11
dc.date.published-print2021-01


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This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Except where otherwise noted, this item's license is described as This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.