1. Ferrè, Silvia, de Baaij, Jeroen H F, Ferreira, Patrick, Hoenderop, Joost G J, Bindels, René J M. 2013. Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. In Journal of the American Society of Nephrology : JASN, 25, 574-86. doi:10.1681/ASN.2013040337. https://pubmed.ncbi.nlm.nih.gov/24204001/
2. Himmelreich, Nastassja, Blau, Nenad, Thöny, Beat. 2021. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. In Molecular genetics and metabolism, 133, 123-136. doi:10.1016/j.ymgme.2021.04.003. https://pubmed.ncbi.nlm.nih.gov/33903016/
3. Tholen, Lotte E, Bos, Caro, Jansen, Pascal W T C, Hoenderop, Joost G J, de Baaij, Jeroen H F. . Bifunctional protein PCBD2 operates as a co-factor for hepatocyte nuclear factor 1β and modulates gene transcription. In FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 35, e21366. doi:10.1096/fj.202002022R. https://pubmed.ncbi.nlm.nih.gov/33749890/
4. Simaite, Deimante, Kofent, Julia, Gong, Maolian, Hübner, Norbert, Raile, Klemens. 2014. Recessive mutations in PCBD1 cause a new type of early-onset diabetes. In Diabetes, 63, 3557-64. doi:10.2337/db13-1784. https://pubmed.ncbi.nlm.nih.gov/24848070/
5. Gu, Xuefeng, Yu, Zhongxian, Qian, Tianwei, Li, Ming, Tao, Ke. 2024. Transcriptomic analysis identifies the shared diagnostic biomarkers and immune relationship between Atherosclerosis and abdominal aortic aneurysm based on fatty acid metabolism gene set. In Frontiers in molecular biosciences, 11, 1365447. doi:10.3389/fmolb.2024.1365447. https://pubmed.ncbi.nlm.nih.gov/38660376/