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22. [Enzyme deficiencies detected on cultured fibroblasts and amniotic cells. Application to prenatal diagnosis]. Dreyfus JC; Poenaru L Ann Biol Clin (Paris); 1975; 33(6):465-72. PubMed ID: 818927 [TBL] [Abstract][Full Text] [Related]
23. An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. Jiang C; Hong R; Horowitz SD; Kong X; Hirschhorn R Hum Mol Genet; 1997 Dec; 6(13):2271-8. PubMed ID: 9361033 [TBL] [Abstract][Full Text] [Related]
24. Analysis of normal and mutant forms of human adenosine deaminase - a review. Daddona PE; Kelley WN Mol Cell Biochem; 1980 Feb; 29(2):91-101. PubMed ID: 6988697 [TBL] [Abstract][Full Text] [Related]
26. Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene. Berkvens TM; Gerritsen EJ; Oldenburg M; Breukel C; Wijnen JT; van Ormondt H; Vossen JM; van der Eb AJ; Meera Khan P Nucleic Acids Res; 1987 Nov; 15(22):9365-78. PubMed ID: 3684597 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Kaback MM; Leonard CO; Parmley TH Pediatr Res; 1971 Aug; 5(8):366-71. PubMed ID: 5146085 [No Abstract] [Full Text] [Related]
29. Severe combined immunodeficiency in a child with a healthy adenosine deaminase deficient mother. Schmalstieg FC; Mills GC; Tsuda H; Goldman AS Pediatr Res; 1983 Dec; 17(12):935-40. PubMed ID: 6606796 [TBL] [Abstract][Full Text] [Related]
30. Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency. Arredondo-Vega FX; Kurtzberg J; Chaffee S; Santisteban I; Reisner E; Povey MS; Hershfield MS J Clin Invest; 1990 Aug; 86(2):444-52. PubMed ID: 1974554 [TBL] [Abstract][Full Text] [Related]
35. Evidence for control of several different tissue-specific isozymes of adenosine deaminase by a single genetic locus. Hirschhorn R; Levytaka V; Pollara B; Meuwissen HJ Nat New Biol; 1973 Dec; 246(155):200-2. PubMed ID: 4519601 [No Abstract] [Full Text] [Related]
36. Basic defect in the expression of adenosine deaminase in ADA- SCID disease investigated through the cells of an obligate heterozygote. Herbschleb-Voogt E; Pearson PL; Vossen JM; Meera Khan P Hum Genet; 1981; 56(3):379-86. PubMed ID: 7239521 [TBL] [Abstract][Full Text] [Related]
37. Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. Dembure PP; Priest JH; Snoddy SC; Elsas LJ Am J Hum Genet; 1984 Jul; 36(4):783-90. PubMed ID: 6089551 [TBL] [Abstract][Full Text] [Related]
38. Workshop on severe combined immunological deficiency disease and adenosine deaminase deficiency. Albany, New York, on October 1, 1973. Pickering RJ; Pollara B; Meuwissen HJ Clin Immunol Immunopathol; 1974 Nov; 3(2):301-3. PubMed ID: 4615852 [No Abstract] [Full Text] [Related]
39. Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. Morgan G; Levinsky RJ; Hugh-Jones K; Fairbanks LD; Morris GS; Simmonds HA Clin Exp Immunol; 1987 Dec; 70(3):491-9. PubMed ID: 3436096 [TBL] [Abstract][Full Text] [Related]
40. Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. Christensen E; Brandt NJ Clin Chim Acta; 1978 Sep; 88(2):267-76. PubMed ID: 699321 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]