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Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
Gil-Krzewska A, Wood SM, Murakami Y, Nguyen V, Chiang SCC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K. Gil-Krzewska A, et al. Among authors: gahl wa. J Allergy Clin Immunol. 2016 Apr;137(4):1165-1177. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21. J Allergy Clin Immunol. 2016. PMID: 26478006 Free PMC article.
Natural history of alkaptonuria.
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. Among authors: gahl wa. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Merideth MA, et al. Among authors: gahl wa. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898. N Engl J Med. 2008. PMID: 18256394 Free PMC article.
Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes.
Domingo DL, Trujillo MI, Council SE, Merideth MA, Gordon LB, Wu T, Introne WJ, Gahl WA, Hart TC. Domingo DL, et al. Among authors: gahl wa. Oral Dis. 2009 Apr;15(3):187-95. doi: 10.1111/j.1601-0825.2009.01521.x. Epub 2009 Feb 19. Oral Dis. 2009. PMID: 19236595 Free PMC article.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA. Vilboux T, et al. Among authors: gahl wa. Hum Mutat. 2009 Dec;30(12):1611-9. doi: 10.1002/humu.21120. Hum Mutat. 2009. PMID: 19862842 Free PMC article.
715 results