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Page 1
Early-onset stroke and vasculopathy associated with mutations in ADA2.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: ganson nj. N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19. N Engl J Med. 2014. PMID: 24552284 Free PMC article.
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.
Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA. Lee PY, et al. Among authors: ganson nj. J Allergy Clin Immunol. 2018 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. J Allergy Clin Immunol. 2018. PMID: 29936104 Free PMC article.
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ, Ganson NJ, Kfir-Erenfeld S, Weintraub M, Elpeleg O, Berkun Y, Stepensky P. Ben-Ami T, et al. Among authors: ganson nj. J Pediatr. 2016 Oct;177:316-320. doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8. J Pediatr. 2016. PMID: 27514238
Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.
Hsu AP, West RR, Calvo KR, Cuellar-Rodriguez J, Parta M, Kelly SJ, Ganson NJ, Hershfield MS, Holland SM, Hickstein DD. Hsu AP, et al. Among authors: ganson nj. J Allergy Clin Immunol. 2016 Aug;138(2):628-630.e2. doi: 10.1016/j.jaci.2016.03.016. Epub 2016 Apr 6. J Allergy Clin Immunol. 2016. PMID: 27130863 Free PMC article. No abstract available.
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.
Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, Frans G, Schaballie H, De Hertogh G, Dooley J, Bossuyt X, Wouters C, Liston A, Meyts I. Van Eyck L Jr, et al. Among authors: ganson nj. J Allergy Clin Immunol. 2015 Jan;135(1):283-7.e5. doi: 10.1016/j.jaci.2014.10.010. Epub 2014 Nov 25. J Allergy Clin Immunol. 2015. PMID: 25457153 Free PMC article. No abstract available.
18 results