Zobrazeno 1 - 10 of 446 pro vyhledávání: '"WL Nyhan"'
1
Akademický článek
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
Autor: KM Gibson, G Hoffmann, A Schwall, RL Broock, S Aramaki, L Sweetman, WL Nyhan, IK Brandt, RS Wappner, W Lehnert
Publikováno v: Journal of Lipid Research, Vol 31, Iss 3, Pp 515-521 (1990)
3-Hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase activity was measured in extracts of cultured fibroblasts derived from patients with mevalonate kinase deficiency (MKD). For six patients studied, the mean activity of 63.3 +/- 41.1 pmol/min-m
Externí odkaz: https://doaj.org/article/d7953694a85b464f80c424499a3691e0
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4
Effects of 2'-deoxycoformycin on the metabolism of purines and the survival of malignant cells in a patient with T-cell leukemia
Autor: alice yu, Bakay B, Fh, Kung, Wl, Nyhan
Publikováno v: Europe PubMed Central
The in vitro effects of deoxyadenosine and an adenosine deaminase inhibitor, deoxycoformycin, on the synthesis of DNA and the metabolism of purines were investigated in human leukemic T-cells. In the presence of 10 microM deoxycoformycin, the synthes
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::beea548811b29be7f45fc11a69cdebd6
https://pubmed.ncbi.nlm.nih.gov/6972800
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5
Biochemical correlates of the differential sensitivity of subtypes of human leukemia to deoxyadenosine and deoxycoformycin
Autor: Ss, Matsumoto, alice yu, Lc, Bleeker, Bakay B, Fh, Kung, Wl, Nyhan
Publikováno v: Europe PubMed Central
Leukemic cells incubated in vitro with 2′-deoxyadenosine (dAdo) plus an inhibitor of adenosine deaminase, 2′-deoxy-coformycin (DCF), show different metabolic responses depending on the histologic and immunologic type of the leukemia. Leukemic cel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd9ed0b5fe3cd9089c6e89e92bb10a8
http://europepmc.org/abstract/med/6289941
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8
Report
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
Autor: Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Blume ED; Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Wessel A; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Singh T; Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Hecht L; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Marsden D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Sahai I; Pediatrics-Genetics Department, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USA., Elisofon S; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Ferguson M; Division of Nephrology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Kim HB; Department of Surgery, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Harris DJ; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Demirbas D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Almuqbil M; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Nyhan WL; Department of Pediatrics University of California San Diego La Jolla California USA.
Publikováno v: JIMD reports [JIMD Rep] 2020 Apr 08; Vol. 54 (1), pp. 3-8. Date of Electronic Publication: 2020 Apr 08 (Print Publication: 2020).
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9
Akademický článek
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
Autor: Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA., Naviaux RK; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.; Department of Pathology, School of Medicine, University of California, San Diego, California, USA., Nyhan WL; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.
Publikováno v: Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2020; Vol. 39 (6), pp. 905-922. Date of Electronic Publication: 2020 Apr 20.
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10
Akademický článek
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Autor: Nyhan WL; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA. Electronic address: wnyhan@ucsd.edu., McGowan K; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA., Barshop BA; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2019 Dec; Vol. 499, pp. 13-15. Date of Electronic Publication: 2019 Aug 09.
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