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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Detalhes bibliográficos
Publicado no:JAMA Netw Open
Main Authors: 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
Idioma:Inglês
Publicado em: American Medical Association 2020
Assuntos:
Original Investigation
Acesso em linha: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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