المؤلفون: KM Gibson, G Hoffmann, A Schwall, RL Broock, S Aramaki, L Sweetman, WL Nyhan, IK Brandt, RS Wappner, W Lehnert

المصدر: Journal of Lipid Research, Vol 31, Iss 3, Pp 515-521 (1990)

مصطلحات موضوعية: Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520431736; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/d7953694a85b464f80c424499a3691e0

المؤلفون: Page T, Barshop B, alice yu, Wl, Nyhan

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Hypoxanthine, Leukemia, Adolescent, Lesch-Nyhan Syndrome, Oxypurinol, Ribonucleotides, Aminoimidazole Carboxamide, Xanthine, Uric Acid, Hypoxanthines, Xanthines, Humans, Infusions, Intravenous

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0532583194fe584acebdc8d725aed875
https://pubmed.ncbi.nlm.nih.gov/7660927

المؤلفون: alice yu, Bakay B, Fh, Kung, Wl, Nyhan

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Erythrocytes, Deoxyadenosines, Coformycin, T-Lymphocytes, DNA, Leukemia, Lymphoid, Leukocyte Count, Purines, Child, Preschool, Adenosine Deaminase Inhibitors, Humans, Ribonucleosides, Pentostatin, Cells, Cultured, Chromatography, High Pressure Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::beea548811b29be7f45fc11a69cdebd6
https://pubmed.ncbi.nlm.nih.gov/6972800

المؤلفون: alice yu, Matsumoto S, Bleeker L, Alvarez A, Bakay B, Wl, Nyhan, Kung F

المصدر: Europe PubMed Central

مصطلحات موضوعية: DNA Replication, Adenosine Triphosphate, Deoxyadenine Nucleotides, Leukemia, Coformycin, Humans, Antineoplastic Agents, Ribonucleosides, Pentostatin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::06cdd655b87bd439d59bacd379dcffcd
https://pubmed.ncbi.nlm.nih.gov/6609536

المؤلفون: Ss, Matsumoto, alice yu, Lc, Bleeker, Bakay B, Fh, Kung, Wl, Nyhan

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Leukemia, Adolescent, Deoxyadenosines, Lymphoma, Adenosine Deaminase, Immunology, Cell Biology, Hematology, Biochemistry, Leukemia, Lymphoid, Leukemia, Myeloid, Acute, Deoxyadenine Nucleotides, Leukemia, Myeloid, Nucleotidases, hemic and lymphatic diseases, Leukocytes, Humans, Lymphocytes, Pentostatin, Vidarabine, Thymidine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd9ed0b5fe3cd9089c6e89e92bb10a8
http://europepmc.org/abstract/med/6289941

المؤلفون: alice yu, Fh, Kung, Bakay B, Wl, Nyhan

المصدر: Europe PubMed Central

مصطلحات موضوعية: Male, Clinical Trials as Topic, Deoxyadenosines, Coformycin, Purines, Child, Preschool, T-Lymphocytes, Humans, Ribonucleosides, Pentostatin, Chromatography, High Pressure Liquid, Leukemia, Lymphoid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d0237c91bf82993ec07c31b2960b7763
http://europepmc.org/abstract/med/397762

المؤلفون: Page T, Wl, Nyhan, alice yu, Yu J

المصدر: Europe PubMed Central

مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Anemia, Megaloblastic, Nucleotides, Seizures, Child, Preschool, Immunologic Deficiency Syndromes, Humans, Female, Pyrimidine Nucleotides, Child Behavior Disorders, Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::02b3379f6cb21c6bc20fdab472345e22
http://europepmc.org/abstract/med/1781393

المؤلفون: 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.

المصدر: JIMD reports [JIMD Rep] 2020 Apr 08; Vol. 54 (1), pp. 3-8. Date of Electronic Publication: 2020 Apr 08 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: 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.

المصدر: Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2020; Vol. 39 (6), pp. 905-922. Date of Electronic Publication: 2020 Apr 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 100892832 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2335 (Electronic) Linking ISSN: 15257770 NLM ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Subsets: MEDLINE

مواضيع طبية MeSH: Amyloid beta-Protein Precursor/*genetics , Hypoxanthine Phosphoribosyltransferase/*genetics , Lesch-Nyhan Syndrome/*genetics , Lesch-Nyhan Syndrome/*metabolism, Amyloid beta-Protein Precursor/metabolism ; Epigenomics ; Gene Expression Regulation ; HEK293 Cells ; Humans ; Hypoxanthine Phosphoribosyltransferase/metabolism ; Mutation ; Purines/metabolism ; Reduced Folate Carrier Protein/genetics ; Reduced Folate Carrier Protein/metabolism ; Transfection

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Basal Ganglia Diseases/*genetics , Biotin/*therapeutic use , Thiamin Pyrophosphokinase/*deficiency , Thiamin Pyrophosphokinase/*genetics, Adult ; Basal Ganglia Diseases/metabolism ; Basal Ganglia Diseases/pathology ; Biotin/blood ; Biotin/urine ; Female ; Humans ; Mutation ; Phenotype ; Thiamin Pyrophosphokinase/metabolism ; Thiamine/therapeutic use

SCR Disease Name: Basal ganglia disease, biotin-responsive