Literature DB >> 6418227

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy.

R Hirschhorn.   

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Year:  1983        PMID: 6418227

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  14 in total

1.  Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders.

Authors:  L D Fairbanks; H A Simmonds; D R Webster
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

2.  Defective expression of T cell-associated glycoprotein in severe combined immunodeficiency.

Authors:  L K Jung; S M Fu; T Hara; N Kapoor; R A Good
Journal:  J Clin Invest       Date:  1986-03       Impact factor: 14.808

3.  Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.

Authors:  M E Conley; A Lavoie; C Briggs; P Brown; C Guerra; J M Puck
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

4.  Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

Authors:  J M Puck; R L Nussbaum; M E Conley
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

5.  A novel X-linked combined immunodeficiency disease.

Authors:  E G Brooks; F C Schmalstieg; D P Wirt; H M Rosenblatt; L T Adkins; D P Lookingbill; H E Rudloff; T A Rakusan; A S Goldman
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

6.  Long term expression of Drosophila melanogaster nucleoside kinase in thymidine kinase 2-deficient mice with no lethal effects caused by nucleotide pool imbalances.

Authors:  Shuba Krishnan; João A Paredes; Xiaoshan Zhou; Raoul V Kuiper; Kjell Hultenby; Sophie Curbo; Anna Karlsson
Journal:  J Biol Chem       Date:  2014-10-08       Impact factor: 5.157

7.  Partial adenosine deaminase deficiency: another family from southern Africa.

Authors:  S L Hart; A B Lane; T Jenkins
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

8.  X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.

Authors:  M E Conley; R H Buckley; R Hong; C Guerra-Hanson; C M Roifman; J A Brochstein; S Pahwa; J M Puck
Journal:  J Clin Invest       Date:  1990-05       Impact factor: 14.808

9.  Pre-B cells in agammaglobulinemia: evidence for disease heterogeneity among affected boys.

Authors:  K S Landreth; D Engelhard; C Anasetti; N Kapoor; P W Kincade; R A Good
Journal:  J Clin Immunol       Date:  1985-03       Impact factor: 8.317

10.  Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.

Authors:  L D Notarangelo; G Stoppoloni; R Toraldo; E Mazzolari; A Coletta; P Airò; C Bordignon; A G Ugazio
Journal:  Eur J Pediatr       Date:  1992-11       Impact factor: 3.183

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