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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Chen CH, et al. Among authors: desnick rj. J Clin Invest. 1994 Nov;94(5):1927-37. doi: 10.1172/JCI117543. J Clin Invest. 1994. PMID: 7962538 Free PMC article.
Recommendations for the diagnosis and treatment of the acute porphyrias.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ. Anderson KE, et al. Among authors: desnick rj. Ann Intern Med. 2005 Mar 15;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010. Ann Intern Med. 2005. PMID: 15767622 Review.
The porphyrias: advances in diagnosis and treatment.
Balwani M, Desnick RJ. Balwani M, et al. Among authors: desnick rj. Blood. 2012 Nov 29;120(23):4496-504. doi: 10.1182/blood-2012-05-423186. Epub 2012 Jul 12. Blood. 2012. PMID: 22791288 Free PMC article. Review.
The porphyrias: advances in diagnosis and treatment.
Balwani M, Desnick RJ. Balwani M, et al. Among authors: desnick rj. Hematology Am Soc Hematol Educ Program. 2012;2012:19-27. doi: 10.1182/asheducation-2012.1.19. Hematology Am Soc Hematol Educ Program. 2012. PMID: 23233556 Review.
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Balwani M, et al. Among authors: desnick rj. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340. Mol Med. 2013. PMID: 23364466 Free PMC article.
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Bonkovsky HL, et al. Among authors: desnick rj. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10. Am J Med. 2014. PMID: 25016127 Free PMC article.
602 results