OR19-4 High Prevalence of Primary Hypothyroidism in Patients with Alkaptonuria Eighteen Years of Experience

Background: Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by pathogenic variants in the gene encoding homogentisate-1,2-deoxygenase (HGD). Deficiency of HGD leads to tissue deposition of homogentisic acid (HGA), causing severe osteoarthropathies, aortic and mitral valve degenerati...

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Detalles Bibliográficos
Autores principales: Avadhanula, Shirisha, Introne, Wendy, Soldin, Steven, Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando, Burman, Kenneth, Klubo-Gwiezdzinska, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Thyroid
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554794/
http://dx.doi.org/10.1210/js.2019-OR19-4

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