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Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Abstract Central 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.

Gardado en:
Principais autores: Malak Ali Alghamdi, Waleed H. Alkhamis, Dima Z. Jamjoom, Reem Al Khalifah, Nawaf Rahi Alshammari, Khalid Alsumaili, Stefan T. Arold
Formato: Artigo
Idioma:Inglês
Publicado: Wiley 2021-01-01
Series:Clinical Case Reports
Assuntos:
ALDH5A1
central hypothyroidism
developmental delay
succinic semialdehyde dehydrogenase deficiency
Acceso en liña:https://doi.org/10.1002/ccr3.3504
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