المؤلفون: Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Hypoxanthine-guanine phosphoribosyltransferase deficiency, hyperuricemia, Lesch-Nyhan disease, Lesch-Nyhan variant, HPRT1 mutation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304&tlng=en; https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/ff16c313e79a4724aba91300ea38e186

المؤلفون: Karin Kipper, Max Hecht, Natalicia J. Antunes, Lynette D. Fairbanks, Michelle Levene, Sema Kalkan Uçar, Andrew Schaefer, Emma L. Blakely, Bridget E. Bax

المصدر: Journal of Clinical Medicine, Vol 9, Iss 3, p 788 (2020)

مصطلحات موضوعية: lc–ms/ms, method validation, thymidine, 2’-deoxyuridine, mitochondrial neurogastrointestinal encephalomyopathy, erythrocyte encapsulated thymidine phosphorylase, ee-tp, Medicine

Relation: https://www.mdpi.com/2077-0383/9/3/788; https://doaj.org/toc/2077-0383; https://doaj.org/article/8417c5e8ee244df4ad0679e039d9e77a

الاتاحة: https://doi.org/10.3390/jcm9030788
https://doaj.org/article/8417c5e8ee244df4ad0679e039d9e77a

المؤلفون: Bridget E. Bax, Michelle Levene, Murray D. Bain, Lynette D. Fairbanks, Massimiliano Filosto, Sema Kalkan Uçar, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, Shamima Rahman, Agathe Roubertie, Mauro Scarpelli, Philip M. Sedgwick, Moshe Baru, Marcia Sellos-Moura, Jeanie Price, Patrick Horn, Niranjanan Nirmalananthan

المصدر: Journal of Clinical Medicine; Volume 8; Issue 8; Pages: 1096

مصطلحات موضوعية: mitochondrial neurogastrointestinal encephalomyopathy, MNGIE, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, thymidine phosphorylase, mitochondrial disease, rare disease, orphan disease, Phase II, multiple dose

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm8081096

الاتاحة: https://doi.org/10.3390/jcm8081096

المؤلفون: Werner Löffler, Lynette D. Fairbanks

المصدر: Nucleosides, Nucleotides & Nucleic Acids. 39:1410-1423

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Gout, 010405 organic chemistry, Chemistry, General Medicine, 010402 general chemistry, medicine.disease, 01 natural sciences, Biochemistry, 0104 chemical sciences, Refractory, Genetics, medicine, Humans, Molecular Medicine, Treatment Failure, Clinical care, Intensive care medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6706ac4a784717583dd0ae27a9304858
https://doi.org/10.1080/15257770.2020.1746804

المؤلفون: David T Arnold, Rahul Bhatnagar, Lynette D Fairbanks, Natalie Zahan-Evans, Amelia O Clive, Anna J Morley, Andrew R L Medford, Nicholas A Maskell

المصدر: PLoS ONE, Vol 10, Iss 2, p e0113047 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4315514?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b393031038a94756bb0e60479a2aec1b

المؤلفون: Adriana Becerra, Lynette D. Fairbanks, Norberto Guelbert, Emilia Escuredo, Hyder A. Jinnah, Raquel Dodelson de Kremer, Laura E. Laróvere

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200027, Published: 17 MAR 2021

مصطلحات موضوعية: Oncology, HPRT1 mutation, medicine.medical_specialty, Medicine (General), Endocrinology, Diabetes and Metabolism, Pedigree chart, Disease, Hyperuricemia, hyperuricemia, Single Center, purl.org/becyt/ford/3.3 [https], R5-920, Internal medicine, Genotype, medicine, Genetics (clinical), biology, business.industry, nutritional and metabolic diseases, Lesch-Nyhan disease, Hypoxanthine-guanine phosphoribosyltransferase deficiency, medicine.disease, Hypoxanthine-guanine phosphoribosyltransferase, Pediatrics, Perinatology and Child Health, Cohort, biology.protein, Phosphoribosyltransferase, purl.org/becyt/ford/3 [https], business, Lesch-Nyhan variant

وصف الملف: application/pdf; text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddec96d1f21b024c29e13c06cffa10d0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100304&tlng=en

المؤلفون: Claudia Kemper, Doreen Dobritzsch, Jeroen Roelofsen, Alexandre N. Datta, Gabor Szinnai, John A. Duley, Nina Lenherr, Nicolas Gürtler, Isabel Filges, John Christodoulou, Erin E. West, Lynette D. Fairbanks, André B.P. van Kuilenburg, Martina Huemer

المساهمون: University of Zurich, Huemer, Martina, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100709-(2021)
Molecular genetics and metabolism reports, 26:100709. Elsevier BV
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Purine, medicine.medical_specialty, Adenosine triphosphate, ATP, Guanosine triphosphate, GTP, Cell- och molekylärbiologi, Case Report, NAD phosphate, NADP, 610 Medicine & health, chemistry.chemical_compound, Endocrinology, Atrophy, 1311 Genetics, Internal medicine, 5-phosphoribosyl-1- pyrophosphate, PRPP, PRPP synthase, PRPPS, Genetics, 1312 Molecular Biology, Medicine, S-adenosylmethionine, SAM, Purine metabolism, Molecular Biology, lcsh:QH301-705.5, Medicinsk genetik, lcsh:R5-920, Nicotinamide, business.industry, Arts syndrome, nicotinamide adenine dinucleotide, NAD, phosphoribosyl-pyrophosphate-synthetase-1, PRPS1, medicine.disease, Adenosine, 1310 Endocrinology, chemistry, lcsh:Biology (General), 10036 Medical Clinic, Nicotinamide riboside, Sensorineural hearing loss, Nicotinamide riboside, NR, business, lcsh:Medicine (General), Medical Genetics, Cell and Molecular Biology, medicine.drug

وصف الملف: 1-s2.0-S2214426921000033-main.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aeca935c1a124180f10cfcc4ec01288
https://doi.org/10.5167/uzh-213638

المؤلفون: Richard W.E. Watts, Lynette D. Fairbanks, Anthony M. Marinaki

المصدر: Oxford Textbook of Medicine

مصطلحات موضوعية: Purine, chemistry.chemical_compound, Biochemistry, Chemistry, Pyrimidine metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02490c958612373ffc30cce517d3e105
https://doi.org/10.1093/med/9780198746690.003.0230

المؤلفون: Milena Ivanova, Dobromir Tanev, Tzvetan Alaikov, Parvoleta Peteva, Anthony M. Marinaki, Velizar Shivarov, Lynette D. Fairbanks

المصدر: JCR: Journal of Clinical Rheumatology. 26:e49-e52

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Xanthine Dehydrogenase Deficiency, business.industry, Hereditary xanthinuria, Arthritis, Azathioprine, medicine.disease, Purine/pyrimidine metabolism, Xanthine, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Rheumatology, chemistry, 030220 oncology & carcinogenesis, Internal medicine, medicine, Uric acid, Juvenile, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::540f2460480939e915eeca7342c933e1
https://doi.org/10.1097/rhu.0000000000000838

المؤلفون: Neluwa Liyanage Ruwan Indika, K. L. S. P. K. M. Jayasena, Pyara Ratnayake, Nambage Dona Priyani Dhammika Chandrasiri, Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Dinesha Maduri Vidanapathirana, Blanka Stiburkova, Vindya Nandani Gunasekara, Lynette D. Fairbanks, Hewa Warawitage Dilanthi

المصدر: BMC Research Notes, Vol 10, Iss 1, Pp 1-6 (2017)
BMC Research Notes

مصطلحات موضوعية: Purine, Male, medicine.medical_specialty, 030232 urology & nephrology, lcsh:Medicine, Case Report, Urine, Biology, urologic and male genital diseases, General Biochemistry, Genetics and Molecular Biology, Excretion, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Mass Screening, Xanthine oxidase, Child, lcsh:Science (General), Molybdenum cofactor deficiency, Hyperuricaemic hyperuricosuria, lcsh:QH301-705.5, Mass screening, lcsh:R, Infant, Hypouricaemic hyperuricosuria, General Medicine, Xanthine, medicine.disease, Endocrinology, chemistry, Biochemistry, lcsh:Biology (General), Purines, Child, Preschool, Uric acid, Hypouricaemic hypouricosuria, 030217 neurology & neurosurgery, Metabolic Networks and Pathways, Metabolism, Inborn Errors, lcsh:Q1-390

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4410f3c0c7c65d3432b9bf163a4c0165
http://link.springer.com/article/10.1186/s13104-017-2795-2

المؤلفون: Andrew D. Mackinnon, Niranjanan Nirmalananthan, Mauro Scarpelli, Joanna Poulton, Nicholas Moran, Bridget E. Bax, Dario Pacitti, Murray D. Bain, Hanna Mandel, Lynette D. Fairbanks, Michelle Levene, Massimiliano Filosto

المصدر: Journal of Clinical Medicine
Volume 8
Issue 4
Journal of Clinical Medicine, Vol 8, Iss 4, p 457 (2019)

مصطلحات موضوعية: Mitochondrial disease, lcsh:Medicine, rare disease, Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Pharmacology, thymidine phosphorylase, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, orphan disease, Thymidine phosphorylase, Adverse effect, 030304 developmental biology, 0303 health sciences, business.industry, lcsh:R, General Medicine, Enzyme replacement therapy, medicine.disease, Deoxyuridine, nuclear thymidine phosphorylase gene (TYMP), Enzyme replacement, Mitochondrial neurogastrointestinal encephalomyopathy, Nuclear thymidine phosphorylase gene (TYMP), Orphan disease, Rare disease, Discontinuation, mitochondrial disease, Tolerability, chemistry, enzyme replacement, business, Thymidine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b528e06a3e0b53191cd9d9da1f5174f
https://ora.ox.ac.uk/objects/uuid:a725ef35-9563-41a5-a018-b5025e56a4e7

المؤلفون: Asha Moudgil, Vidar O. Edvardsson, Rasheda Amin, Loai Eid, Lynette D. Fairbanks

المصدر: Pediatric Nephrology. 31:577-580

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, Nephrology, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, 030232 urology & nephrology, medicine, business, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c959a5267ecb5a927c55e2ae970f265
https://doi.org/10.1007/s00467-015-3073-y

المؤلفون: Marlene Carmo, Xiaoyan Wang, Pei Yu Fu, H. Bobby Gaspar, Adrian J. Thrasher, Kenneth Cornetta, Neil J. Sebire, Michael L. Kaufman, Lin Zhang, Donald B. Kohn, Shantha Senadheera, Sabine Geiger, Roger P. Hollis, Denise A. Carbonaro, Aaron R. Cooper, Lynette D. Fairbanks, Rebecca Chan, Xiangyang Jin, Claudia Montiel-Equihua, Michael P. Blundell, Arineh Sahaghian

المصدر: Molecular Therapy; Vol 22
Molecular therapy : the journal of the American Society of Gene Therapy, vol 22, iss 3

مصطلحات موضوعية: Male, Technology, Adenosine Deaminase, T-Lymphocytes, Genetic enhancement, Inbred C57BL, Regenerative Medicine, Medical and Health Sciences, Mice, Peptide Elongation Factor 1, Adenosine deaminase, Stem Cell Research - Nonembryonic - Human, Agammaglobulinemia, Transduction, Genetic, immune system diseases, Drug Discovery, 2.1 Biological and endogenous factors, Aetiology, Promoter Regions, Genetic, Cells, Cultured, B-Lymphocytes, Cultured, hemic and immune systems, Gene Therapy, Biological Sciences, 3. Good health, Molecular Medicine, Stem Cell Research - Nonembryonic - Non-Human, Female, Original Article, Development of treatments and therapeutic interventions, Stem cell, HT29 Cells, Biotechnology, Cells, Virus Integration, Genetic Vectors, Biology, Viral vector, Promoter Regions, Insertional mutagenesis, Transduction, Genetic, Genetics, medicine, Animals, Humans, Molecular Biology, Pharmacology, Transplantation, Severe combined immunodeficiency, 5.2 Cellular and gene therapies, Animal, Lentivirus, Stem Cell Research, medicine.disease, Molecular biology, Adenosine deaminase deficiency, Mice, Inbred C57BL, Disease Models, Animal, HEK293 Cells, Disease Models, biology.protein, Severe Combined Immunodeficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f531d9384cb4c21b48e545fdf02e8e3

المؤلفون: Monica Arenas-Hernandez, Anthony M. Marinaki, Melissa Smith, Paul A. Blaker, Jeremy D. Sanderson, Lynette D. Fairbanks, Peter M. Irving, El-Monsor Shobowale-Bakre

المصدر: Biochemical Pharmacology. 86:539-547

مصطلحات موضوعية: Adult, Male, Erythrocytes, Methyltransferase, Allopurinol, Oxypurinol, Balanced salt solution, Azathioprine, Pharmacology, Biochemistry, Thiopurine S-Methyltransferase, medicine, Humans, Prospective Studies, Thiopurine methyltransferase, biology, Mercaptopurine, Chemistry, Methyltransferases, Inflammatory Bowel Diseases, Case-Control Studies, Xanthines, biology.protein, Drug Therapy, Combination, Female, Drug metabolism, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94fd0b88e558828386b67d539dc80901
https://doi.org/10.1016/j.bcp.2013.06.002

المؤلفون: Bridget E. Bax, Charlotte Gasson, David Coleman, Lynette D. Fairbanks, Babunilayam Gangadharan, Michelle Levene, Hugh C. Kilpatrick

المصدر: Toxicological Sciences. 131:311-324

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Erythrocytes, Drug Evaluation, Preclinical, Pharmacology, Toxicology, Beagle, BALB/c, Blood Transfusion, Autologous, Mice, chemistry.chemical_compound, Glycogen phosphorylase, Dogs, Immune system, Muscular Dystrophy, Oculopharyngeal, Mitochondrial Encephalomyopathies, Toxicity Tests, medicine, Animals, Enzyme Replacement Therapy, Thymidine phosphorylase, Drug Carriers, Mice, Inbred BALB C, Thymidine Phosphorylase, Ophthalmoplegia, biology, Intestinal Pseudo-Obstruction, Enzyme replacement therapy, biology.organism_classification, chemistry, biology.protein, Antibody, Erythrocyte Transfusion, Thymidine

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ab7ef8b11eb6bbdc50a81ac6d27b41
https://doi.org/10.1093/toxsci/kfs278

المؤلفون: Aiste Monkeviciute, ME Alonso-Ferrero, Simone Scholz, Reiner Schulz, H. Bobby Gaspar, Marlene Carmo, Lin Zhang, Heba Saadeh, Manfred G. Schmidt, Yasuhiro Takeuchi, Michael Antoniou, Adrian J. Thrasher, Sean Knight, Lynette D. Fairbanks, Claudia Montiel-Equihua, Michael P. Blundell, Mary Collins

المصدر: Molecular Therapy; Vol 20

مصطلحات موضوعية: Adenosine Deaminase, Transgene, Genetic enhancement, Genetic Vectors, Green Fluorescent Proteins, beta-Globins, Biology, Viral vector, Cell Line, 03 medical and health sciences, Jurkat Cells, Mice, 0302 clinical medicine, Peptide Elongation Factor 1, Gene expression, Drug Discovery, Transcriptional regulation, Genetics, Animals, Humans, Promoter Regions, Genetic, Molecular Biology, Erythroid Precursor Cells, Locus control region, 030304 developmental biology, Regulation of gene expression, Pharmacology, 0303 health sciences, Lentivirus, Genetic Therapy, U937 Cells, Hematopoietic Stem Cells, Locus Control Region, Peptide Elongation Factors, Molecular biology, Up-Regulation, Lysosomal Storage Diseases, Mice, Inbred C57BL, HEK293 Cells, Gene Expression Regulation, Molecular Medicine, Original Article, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da85f5f08a13b7b43556c04cb81ce02

المؤلفون: Simone Scholz, Michael Antoniou, H. Bobby Gaspar, Aiste Monkeviciute, Marlene Carmo, ME Alonso-Ferrero, Heba Saadeh, Mary Collins, Yasuhiro Takeuchi, Lin Zhang, Adrian J. Thrasher, Reiner Schulz, Sean Knight, Manfred G. Schmidt, Claudia Montiel-Equihua, Lynette D. Fairbanks, Michael P. Blundell

المصدر: Human Gene Therapy. 23:A1-A22

مصطلحات موضوعية: Expression (architecture), Genetics, Molecular Medicine, Physiology, Biology, Molecular Biology, Gene, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee568292136affcf0738638e2493cd99
https://doi.org/10.1089/hum.2012.2509

المؤلفون: M Arenas, Anthony M. Marinaki, A. Corrigan, Emilia Escuredo, Lynette D. Fairbanks

المصدر: Nucleosides, Nucleotides and Nucleic Acids. 30:1260-1265

مصطلحات موضوعية: Purine, Hypoxanthine Phosphoribosyltransferase, Molecular Sequence Data, Prenatal diagnosis, Carrier testing, Biology, medicine.disease_cause, Biochemistry, Exon, chemistry.chemical_compound, Genetics, medicine, Humans, Exome sequencing, Mutation, Base Sequence, Exons, General Medicine, medicine.disease, Molecular biology, Introns, Phenotype, chemistry, Hypoxanthine-guanine phosphoribosyltransferase, Molecular Medicine, Female, Lesch–Nyhan syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2354301f6d07209d2faefb329ba840e
https://doi.org/10.1080/15257770.2011.590172

المؤلفون: Elizabeth Green, Terry Pountney, H. Anne Simmonds, Lynette D. Fairbanks, Gillian McCarthy, Elizabeth Bryant, Oluwafemi Ogunbona

المصدر: Developmental Medicine & Child Neurology. 53:34-39

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), MEDLINE, Disease, Paediatric neurologist, Developmental Neuroscience, Lesch-Nyhan Disease, Pediatrics, Perinatology and Child Health, medicine, Population study, Neurology (clinical), Family history, Young adult, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::97d3d466412a8bfc39d33e6d53edd49a
https://doi.org/10.1111/j.1469-8749.2010.03786.x

المؤلفون: Paul Ross, Anthony M. Marinaki, Jeremy D. Sanderson, Lynette D. Fairbanks, Aathavan Loganayagam, Monica Arenas-Hernandez

المصدر: Cancer Chemotherapy and Pharmacology. 65:403-406

مصطلحات موضوعية: Adult, Male, Antimetabolites, Antineoplastic, Cancer Research, medicine.medical_specialty, Population, Biology, Toxicology, Deoxycytidine, Gastroenterology, Capecitabine, Neoplasms, Internal medicine, medicine, Mucositis, Dihydropyrimidine dehydrogenase, Humans, Pharmacology (medical), education, Dihydrouracil Dehydrogenase (NADP), Aged, Retrospective Studies, Pharmacology, Genetics, education.field_of_study, Genetic Variation, Middle Aged, medicine.disease, Oncology, Fluorouracil, Toxicity, Female, DPYD, Pharmacogenetics, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c891839c1a7b8746bd9b1b0a19cd69c3
https://doi.org/10.1007/s00280-009-1147-x