المؤلفون: Daisuke Miyamoto, Nana Sato, Koji Nagata, Yukinao Sakai, Hitoshi Sugihara, Yuki Ohashi, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Ken Okamoto

المصدر: Biomedicines, Vol 10, Iss 7, p 1584 (2022)

مصطلحات موضوعية: hypouricemia, xanthinuria, acute kidney injury, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9059/10/7/1584Test; https://doaj.org/toc/2227-9059Test

الوصول الحر: https://doaj.org/article/c04a5bb915034e14b106332916683b4cTest

المؤلفون: Ivan Sebesta, Jörgen Bierau

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783642403361

مصطلحات موضوعية: Purine, medicine.medical_specialty, Genetic heterogeneity, business.industry, Purine analogue, medicine.disease, Gout, chemistry.chemical_compound, chemistry, medicine, Dihydropyrimidine dehydrogenase, In patient, Xanthinuria, Intensive care medicine, business, Neurological impairment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dcf85596d1fd042dde267cd965da09cTest
https://doi.org/10.1007/978-3-030-67727-5_13Test

المؤلفون: Shuichi Tsuruoka, Koji Nagata, Ken Okamoto, Daisuke Miyamoto, Blanka Stiburkova, Ivan Sebesta, Sarka Blahova, Kimiyoshi Ichida, Nana Sato

المصدر: Nucleosides, Nucleotides & Nucleic Acids. 39:1432-1439

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Renal Tubular Transport, Inborn Errors, 010402 general chemistry, 01 natural sciences, Biochemistry, Pathogenesis, Forearm, Ischemia, Internal medicine, Genetics, medicine, Humans, RENAL HYPOURICEMIA, Lactic Acid, Hypouricemia, Pathological, Hypoxanthine, 010405 organic chemistry, Chemistry, Hereditary xanthinuria, Acute kidney injury, General Medicine, Middle Aged, medicine.disease, Uric Acid, 0104 chemical sciences, medicine.anatomical_structure, Exercise Test, Cardiology, Molecular Medicine, Female, Urinary Calculi

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f240c53b3c8277d313f95a513ca5deTest
https://doi.org/10.1080/15257770.2020.1750636Test

المؤلفون: Jakub Krijt, Ivan Sebesta, Blanka Stiburkova

المصدر: Nucleosides, Nucleotides and Nucleic Acids. 37:324-328

مصطلحات موضوعية: Adult, Purine-Pyrimidine Metabolism, Inborn Errors, medicine.medical_specialty, Renal Tubular Transport, Inborn Errors, Xanthine Dehydrogenase, Allopurinol, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Xanthine, Biochemistry, Gastroenterology, Diagnosis, Differential, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Hypouricemia, Child, education, Aldehyde oxidase, Czech Republic, Creatinine, education.field_of_study, General Medicine, medicine.disease, Uric Acid, Aldehyde Oxidase, chemistry, Xanthine dehydrogenase, Purines, Child, Preschool, Molecular Medicine, Uric acid, Urinary Calculi, Metabolism, Inborn Errors, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cf9fa59c4285586af83e77857bd3db6Test
https://doi.org/10.1080/15257770.2018.1460478Test

المؤلفون: Katerina Pavelcova, Ivan Sebesta, Blanka Stiburkova, Lenka Petru

المصدر: Clinica Chimica Acta. 460:46-49

مصطلحات موضوعية: Male, 0301 basic medicine, Purine, Hypoxanthine Phosphoribosyltransferase, medicine.medical_specialty, Gout, Organic anion transporter 1, Clinical Biochemistry, Organic Anion Transporters, Allopurinol, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, ATP Binding Cassette Transporter, Subfamily G, Member 2, Humans, Hyperuricemia, 030203 arthritis & rheumatology, biology, Biochemistry (medical), Metabolic disorder, nutritional and metabolic diseases, General Medicine, Middle Aged, medicine.disease, Neoplasm Proteins, Uric Acid, 030104 developmental biology, Endocrinology, chemistry, Chronic Disease, Mutation, biology.protein, Uric acid, Genetic Background, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a570223a4635a8af2e228991952f01Test
https://doi.org/10.1016/j.cca.2016.06.007Test

المؤلفون: Ivan Sebesta, Olha Hurba, Makiko Nakamura, Andrea Mancikova, Vladimir Krylov, Blanka Stiburkova, Kimiyoshi Ichida

المصدر: Clinical and Experimental Nephrology. 20:578-584

مصطلحات موضوعية: 0301 basic medicine, Proband, Nephrology, medicine.medical_specialty, Renal Tubular Transport, Inborn Errors, Adolescent, Organic Cation Transport Proteins, Physiology, Xenopus, DNA Mutational Analysis, Glucose Transport Proteins, Facilitative, Organic Anion Transporters, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, Physiology (medical), Molecular genetics, Internal medicine, medicine, Animals, Humans, Allele, Child, Genetics, biology, business.industry, Acute kidney injury, Middle Aged, medicine.disease, 030104 developmental biology, chemistry, biology.protein, Uric acid, Female, Urinary Calculi, SLC22A12, business, SLC2A9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04385be78b79ba80c7146e55e36fa2c5Test
https://doi.org/10.1007/s10157-015-1186-zTest

المؤلفون: Ivan Šebesta, David Zeman, Milan Dastych, Viktor Kožich, Vladimír Soška, Milan Dastych jr., Radka Šigutová, Eva Táborská, Milan Jirsa, Daniel Rajdl, Václav Senf, Věra Ploticová, Tomáš Franěk, Richard Průša, Alena Krnáčová, Jiří Zadina, Vladimír Bartoš, Marta Kalousová, Libor Vítek, Tomáš Karlík, Pavlína Kušnierová, Kristian Šafarčík, Petr Kocna, Michaela Králíková, František Všianský, Richard Pikner, Tomáš Zima, Zdeněk Švagera, Jaroslav Racek, Drahomíra Springer

المصدر: Directory of Open Access Books

مصطلحات موضوعية: hist, phil

العلاقة: 20.500.12854/43400; https://directory.doabooks.org/handle/20.500.12854/43400Test

الإتاحة: https://doi.org/20.500.12854/43400Test
https://directory.doabooks.org/handle/20.500.12854/43400Test
https://hdl.handle.net/20.500.12854/43400Test

المؤلفون: Ivan Sebesta, Helena Jahnová, Blanka Stiburkova, Lenka Kryspinova, Vladimir Krylov, Makiko Nakamura, Helena Hulkova, Kimiyoshi Ichida

المصدر: European Journal of Human Genetics. 21:1067-1073

مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Renal Tubular Transport, Inborn Errors, Roma, Organic Cation Transport Proteins, Xenopus, Organic Anion Transporters, Biology, Endoplasmic Reticulum, medicine.disease_cause, Article, Absorption, chemistry.chemical_compound, Gene Frequency, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Animals, Humans, Allele, Child, Allele frequency, Alleles, Genetics (clinical), Czech Republic, Mutation, Membrane Transport Proteins, Acute Kidney Injury, medicine.disease, Pedigree, Uric Acid, chemistry, biology.protein, Uric acid, Female, Urinary Calculi, Neuronal ceroid lipofuscinosis, SLC22A12, SLC2A9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d483b3ad43ce007492999fb97d93279Test
https://doi.org/10.1038/ejhg.2013.3Test

المؤلفون: Josef Bartl, Makoto Hosoyamada, Anthony M. Marinaki, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, J. Taylor

المصدر: Nucleosides, Nucleotides and Nucleic Acids. 30:1112-1116

مصطلحات موضوعية: Adult, Nonsynonymous substitution, medicine.medical_specialty, Renal Tubular Transport, Inborn Errors, Adolescent, Organic Cation Transport Proteins, Organic anion transporter 1, Glucose Transport Proteins, Facilitative, Organic Anion Transporters, medicine.disease_cause, Biochemistry, Gastroenterology, Young Adult, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Hypouricemia, Diagnostic Techniques and Procedures, Aged, Mutation, biology, Genetic disorder, General Medicine, Middle Aged, medicine.disease, Endocrinology, chemistry, biology.protein, Molecular Medicine, Uric acid, Urinary Calculi, SLC22A12, SLC2A9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf27437df6f3518683b46b01d7305902Test
https://doi.org/10.1080/15257770.2011.611483Test

المؤلفون: Kimiyoshi Ichida, Blanka Stiburkova, Ivan Sebesta

المصدر: Molecular Genetics and Metabolism. 102:430-435

مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, Renal Tubular Transport, Inborn Errors, Adolescent, Endocrinology, Diabetes and Metabolism, Glucose Transport Proteins, Facilitative, Biology, Compound heterozygosity, Biochemistry, Young Adult, chemistry.chemical_compound, Endocrinology, Internal medicine, Genetics, medicine, Humans, Hypouricemia, Molecular Biology, Genetic Association Studies, Base Sequence, Homozygote, Acute kidney injury, SLC17A3, Sequence Analysis, DNA, medicine.disease, Pedigree, Uric Acid, Mutagenesis, Insertional, chemistry, Case-Control Studies, biology.protein, Uric acid, Female, Urinary Calculi, SLC22A12, Glomerular Filtration Rate, SLC2A9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fadf138d9a44698a576a6dec1d7d8bbdTest
https://doi.org/10.1016/j.ymgme.2010.12.016Test