Zobrazeno 1 - 6
of 6
pro vyhledávání: '"hypothalamic dysfunction and autonomic dysregulation"'
Autor:
J. Harvengt, A. Lumaka, C. Fasquelle, J. H. Caberg, M. Mastouri, A. Janssen, L. Palmeira, V. Bours
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and
Externí odkaz:
https://doaj.org/article/e83cfcbc2e6341baa5790163bed7fe7d
Akademický článek
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Akademický článek
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Publikováno v:
Journal of Clinical & Translational Endocrinology, Vol 14, Iss, Pp 5-11 (2018)
Benvenga, S, Klose, M, Vita, R & Feldt-Rasmussen, U 2018, ' Less known aspects of central hypothyroidism : Part 2-Congenital etiologies ', Journal of Clinical and Translational Endocrinology, vol. 14, pp. 5-11 . https://doi.org/10.1016/j.jcte.2018.09.004
Journal of Clinical & Translational Endocrinology
Benvenga, S, Klose, M, Vita, R & Feldt-Rasmussen, U 2018, ' Less known aspects of central hypothyroidism : Part 2-Congenital etiologies ', Journal of Clinical and Translational Endocrinology, vol. 14, pp. 5-11 . https://doi.org/10.1016/j.jcte.2018.09.004
Journal of Clinical & Translational Endocrinology
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cbcd4802c4e97140d18739120c819b3
http://hdl.handle.net/11570/3132541
http://hdl.handle.net/11570/3132541
Autor:
Marpuri I; Department of Pediatrics, Center for Diabetes, Endocrinology and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine of USC, Los Angeles, CA, USA., Ra E; Department of Pediatrics, Children's Hospital of Los Angeles, Los Angeles, CA, USA., Naguib MN; Department of Pediatrics, Center for Diabetes, Endocrinology and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine of USC, Los Angeles, CA, USA., Vidmar AP; Department of Pediatrics, Center for Diabetes, Endocrinology and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine of USC, Los Angeles, CA, USA.
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Dec 23; Vol. 35 (4), pp. 543-548. Date of Electronic Publication: 2021 Dec 23 (Print Publication: 2022).
Autor:
Benvenga S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Master Program on Childhood, Adolescent and Women's Endocrine Health, University of Messina, Messina, Italy.; Interdepartmental Program of Molecular & Clinical Endocrinology, and Women's Endocrine Health, University Hospital Policlinico G. Martino, Messina, Italy., Klose M; Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark., Vita R; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Feldt-Rasmussen U; Department of Medical Endocrinology and Metabolism, Rigshospitalet, National University Hospital, Copenhagen University, Copenhagen, Denmark.
Publikováno v:
Journal of clinical & translational endocrinology [J Clin Transl Endocrinol] 2018 Sep 27; Vol. 14, pp. 5-11. Date of Electronic Publication: 2018 Sep 27 (Print Publication: 2018).