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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Dades bibliogràfiques
Publicat a:JAMA Netw Open
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: American Medical Association 2020
Matèries:
Original Investigation
Accés en línia: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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