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7. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Hershfield MS Curr Opin Immunol; 2003 Oct; 15(5):571-7. PubMed ID: 14499267 [TBL] [Abstract][Full Text] [Related]
8. Gene therapy of primary immunodeficiencies. Fischer A; De Saint Basile G; Disanto JP; Hacein-Bey S; Sharara L; Cavazzana-Calvo M Adv Nephrol Necker Hosp; 1997; 26():107-20. PubMed ID: 8922128 [No Abstract] [Full Text] [Related]
9. [Severe combined immunodeficiencies: a case of adenosine-deaminase deficit]. Macellaro P; Savarino A; Cucchi G; Lazzati A; Zuccotti GV Pediatr Med Chir; 2004; 26(3):191-5. PubMed ID: 16366403 [TBL] [Abstract][Full Text] [Related]
10. Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy. Hirschhorn R Birth Defects Orig Artic Ser; 1983; 19(3):73-81. PubMed ID: 6418227 [No Abstract] [Full Text] [Related]
11. Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency. Hirschhorn R Pediatr Res; 1993 Jan; 33(1 Suppl):S35-41. PubMed ID: 8433873 [TBL] [Abstract][Full Text] [Related]
12. Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency. Davies EG; Levinsky RJ; Webster DR; Simmonds HA; Perrett D Clin Exp Immunol; 1982 Nov; 50(2):303-10. PubMed ID: 6983936 [TBL] [Abstract][Full Text] [Related]
13. [Current clinical immunology: a genetic and molecular perspective]. Carrión F; Figueroa FE; Rodríguez C Rev Med Chil; 2000 Jun; 128(6):650-8. PubMed ID: 11016066 [TBL] [Abstract][Full Text] [Related]
15. Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. Geelen J; Pfundt R; Meijer J; Verheijen FW; van Kuilenburg AB; Warris A; Marcelis C J Allergy Clin Immunol; 2013 Jul; 132(1):222-3. PubMed ID: 23260757 [No Abstract] [Full Text] [Related]
16. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Arredondo-Vega FX; Santisteban I; Daniels S; Toutain S; Hershfield MS Am J Hum Genet; 1998 Oct; 63(4):1049-59. PubMed ID: 9758612 [TBL] [Abstract][Full Text] [Related]
17. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. Arrendondo-Vega FX; Santisteban I; Notarangelo LD; El Dahr J; Buckley R; Roifman C; Conley ME; Hershfield MS Hum Mutat; 1998; 11(6):482. PubMed ID: 10200056 [TBL] [Abstract][Full Text] [Related]
18. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. Van Eyck L; 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 J Allergy Clin Immunol; 2015 Jan; 135(1):283-7.e5. PubMed ID: 25457153 [No Abstract] [Full Text] [Related]
20. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Hirschhorn R; Yang DR; Puck JM; Huie ML; Jiang CK; Kurlandsky LE Nat Genet; 1996 Jul; 13(3):290-5. PubMed ID: 8673127 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]