Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome-Reference-Cited by-同舟云学术

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome

Published:2023-07-26 Issue:3 Volume:22 Page:515-520
ISSN:1109-3099
Container-title:Hormones
language:en
Short-container-title:Hormones

Author:

Nikolaou Michaela^ORCID,Vasilakis Ioannis-Anargyros,Marinakis Nikolaos M.,Tilemis Faidon-Nikolaos,Zellos Aglaia,Lykopoulou Evangelia,Traeger-Synodinos Joanne,Kanaka-Gantenbein Christina

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s42000-023-00468-0.pdf

Reference25 articles.

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2. Naafs JC, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N (2020) Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening. Eur J Endocrinol 183(6):627–636. https://doi.org/10.1530/EJE-20-0833

3. LaFranchi SH (2010) Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis (Suppl 2):S225–S233. https://doi.org/10.1007/s10545-010-9062-1

4. Joustra SD, Meijer OC, Heinen CA, Mol IM, Laghmani el H, Sengers RM, Carreno G, van Trotsenburg AS, Biermasz NR, Bernard DJ, Wit JM, Oostdijk W, van Pelt AM, Hamer G, Wagenaar GT (2015) Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat. J Endocrinol 226(3):181–191. https://doi.org/10.1530/JOE-15-0204

5. Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, Bernard DJ, Fliers E, van Trotsenburg AS, Losekoot M, Persani L, Wit JM, Biermasz NR, Pereira AM, Oostdijk W, IGSF1 Clinical Care Group (2016) IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management. J Clin Endocrinol Metab 101(4):1627–1636. https://doi.org/10.1210/jc.2015-3880

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