檢索結果

在您的搜尋 主題建議
Refine Results
  1. 1
    Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts.

    Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts. 由 John Brennand, David Konecki, C. Thomas Caskey

    出版 1983
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

    Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome 由 William N. Kelley, Jean C. Meade

    出版 1971
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

    Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease 由 H. A. Jinnah, BE Wojcik, Mary Hunt, Neelam Narang, KY Lee, Menek Goldstein, JK Wamsley, PJ Langlais, Theodore Friedmann

    出版 1994
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector.

    Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. 由 Randall C. Willis, Douglas J. Jolly, A. Dusty Miller, Matthew M. Plent, A C Esty, PearlR. Anderson, Huei-Che Chang, Oliver W. Jones, J. Edwin Seegmiller, Theodore Friedmann

    出版 1984
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Metabolic disorders of purine metabolism affecting the nervous system

    Metabolic disorders of purine metabolism affecting the nervous system 由 Hyder A. Jinnah, Richard L. Sabina, Georges Berghe

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

    Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. 由 Richard A. Gibbs, P N Nguyen, Lincoln J. McBride, S M Koepf, C. Thomas Caskey

    出版 1989
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome

    Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome 由 William L. Nyhan, Bohdan Bakay, James D. Connor, James F. Marks, Doman K. Keele

    出版 1970
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females

    Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females 由 Patrick J. OʼNeill, Lucy Trombley, MARY GUNDEL, Timothy C. Hunter, Janice A. Nicklas, MARA LUCIA S. FERREIRA, MARIA JULIA BUGALLO, ANTÔNIO CARLOS FARIAS, Alfredo Löhr, MERI DIAMANTOPOULOS, Salmo Raskin

    出版 1999
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Diagnosis and Treatment of the Lesch-Nyhan Syndrome

    Diagnosis and Treatment of the Lesch-Nyhan Syndrome 由 J.C. Crawhall, J. Frank Henderson, W. N. Kelley

    出版 1972
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  10. 10
    Linkage between HPRTB STR alleles and Lesch–Nyhan syndrome inside a family: Implications in forensic casework

    Linkage between HPRTB STR alleles and Lesch–Nyhan syndrome inside a family: Implications in forensic casework 由 Adriana González Gil, Adriana Castillo, Fernando Rodrı́guez, António Amorim, Leonor Gusmão

    出版 2012
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  11. 11
    Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants

    Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants 由 Rosa J. Torres, Juan Puig, H. A. Jinnah

    出版 2011
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  12. 12
    Lesch-Nyhan disease: from mechanism to model and back again

    Lesch-Nyhan disease: from mechanism to model and back again 由 Hyder A. Jinnah

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Chemical Agents Selective for Mutant or Normal Cultured Fibroblasts in Mixed and Heterozygote Cultures

    Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Chemical Agents Selective for Mutant or Normal Cultured Fibroblasts in Mixed and Heterozygote Cultures 由 Wilfred Y. Fujimoto, J. H. Subak‐Sharpe, J. Edwin Seegmiller

    出版 1971
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency.

    Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. 由 H. Anne Simmonds, Lynette D. Fairbanks, G. S. Morris, Gareth J. Morgan, Alan R. Watson, Peter Timms, Baljinder Singh

    出版 1987
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase

    Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase 由 Lina Mastrangelo, Ji‐Eun Kim, Atsushi Miyanohara, Tae Hyuk Kang, Theodore Friedmann

    出版 2012
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Evidence for Transfer of Enzyme Product as the Basis of Metabolic Cooperation between Tissue Culture Fibroblasts of Lesch-Nyhan Disease and Normal Cells

    Evidence for Transfer of Enzyme Product as the Basis of Metabolic Cooperation between Tissue Culture Fibroblasts of Lesch-Nyhan Disease and Normal Cells 由 Rody P. Cox, Marjorie R. Krauss, M. Earl Balis, Joseph Dancis

    出版 1970
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts.

    Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. 由 Beverly L. Davidson, Susan A. Tarlé, T D Palella, William N. Kelley

    出版 1989
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Attenuated variants of Lesch-Nyhan disease

    Attenuated variants of Lesch-Nyhan disease 由 H. A. Jinnah, Irène Ceballos-Picot, Rosa J. Torres, Jasper E. Visser, David J. Schretlen, Ana Verdú, Laura E. Laróvere, Chung‐Jen Chen, Antonio Cossu, Chien‐Hui Wu, Radhika Sampat, Shun‐Jen Chang, Raquel Dodelson de Kremer, William L. Nyhan, James C. Harris, Stephen G. Reich, Juan Puig

    出版 2010
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  19. 19
    Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

    Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome 由 Rosa J. Torres, Juan Puig

    出版 2007
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  20. 20
    Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

    Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome 由 William J. Arnold, Jean C. Meade, William N. Kelley

    出版 1972
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: