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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Detaylı Bibliyografya
Yayımlandı:JAMA Netw Open
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Medical Association 2020
Konular:
Original Investigation
Online Erişim: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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