Assessment of Thyroid Function in Patients With Alkaptonuria

IMPORTANCE: Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene. Deficiency of the HGD enzyme leads to tissue deposition of homogentisic acid (HGA), causing severe osteoarthropathies and cardiac valve degeneration. Although HGD is vital for the catabolism of...

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Detalles Bibliográficos
Publicado en:JAMA Netw Open
Autores principales: Avadhanula, Shirisha, Introne, Wendy J., Auh, Sungyoung, Soldin, Steven J., Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando C., Burman, Kenneth D., Klubo-Gwiezdzinska, Joanna
Formato: Artigo
Lenguaje:Inglês
Publicado: American Medical Association 2020
Materias:
Original Investigation
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7090965/
https://ncbi.nlm.nih.gov/pubmed/32202644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2020.1357
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