| 1 | DBH, ORTHYP1
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| Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
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| Wassenberg T, Deinum J, van Ittersum FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van den Meiracker T, Lenders JWM, Monnens L, Willemsen MA.
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| J Inherit Metab Dis. May;44(3):554-565. doi: 10.1002/jimd.12321. Epub 2020 Oct 15. 2021
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| 2 | DBH, ORTHYP1
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| Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.
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| Arnold AC, Garland EM, Celedonio JE, Raj SR, Abumrad NN, Biaggioni I, Robertson D, Luther JM, Shibao CA.
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| J Clin Endocrinol Metab. Jan 1;102(1):10-14. doi: 10.1210/jc.2016-3274. 2017
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| 3 | ORTHYP1
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| Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.
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| Kim CH, Leung A, Huh YH, Yang E, Kim DJ, Leblanc P, Ryu H, Kim K, Kim DW, Garland EM, Raj SR, Biaggioni I, Robertson D, Kim KS.
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| J Biol Chem 286(11):9196-204. Epub 2011 Jan 5. 2011
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| 4 | ORTHYP1, WAGR
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| Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency-Case report and review of the literature.
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| Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T.
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| Am J Med Genet A 152A(3):732-6.PMID: 20186791 2010
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| 5 | ORTHYP1
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| Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
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| Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS.
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| Am J Med Genet 108(2):140-7. 2002
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