المؤلفون: Nicole M. Tate, Katie M. Minor, Jody P. Lulich, James R. Mickelson, Allyson Berent, Jonathan D. Foster, Kasey H. Petersen, Eva Furrow

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100792- (2021)

مصطلحات موضوعية: Xanthine dehydrogenase, Molybdenum cofactor sulfurase, Hereditary xanthinuria, Canine genetics, Kidney stones, Nephrolithiasis, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000860; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d0d68e09b2a84a188ca82aec80814820

المؤلفون: Aicha Ezoubeiri, Asma Labaali, Naima Fdil, Jean-François Benoist, Laila Chabaa

المصدر: PAMJ Clinical Medicine, Vol 1, Iss 55 (2019)

مصطلحات موضوعية: hypo-uric acid, hypoxanthine, xanthine, xanthine oxidase, hereditary xanthinuria, Medicine

وصف الملف: electronic resource

Relation: https://www.clinical-medicine.panafrican-med-journal.com/content/article/1/55/pdf/55.pdf; https://doaj.org/toc/2707-2797

URL الوصول: https://doaj.org/article/69fe52ce78f847f1a1bc9cdb3f536dcd

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7f240c53b3c8277d313f95a513ca5de
https://doi.org/10.1080/15257770.2020.1750636

المؤلفون: Nicole M, Tate, Katie M, Minor, Jody P, Lulich, James R, Mickelson, Allyson, Berent, Jonathan D, Foster, Kasey H, Petersen, Eva, Furrow

المصدر: Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Canine genetics, Xanthine dehydrogenase, Kidney stones, MT, Manchester Terrier, ECS, English Cocker Spaniel, Nephrolithiasis, Molybdenum cofactor sulfurase, XDH, xanthine dehydrogenase, FFPE, formalin-fixed paraffin-embedded, MUC, Minnesota Urolith Center, MOCOS, molybdenum cofactor sulfurase, MX, mixed breed, Hereditary xanthinuria, DACH, Dachshund, DBVDC, Dog Biomedical Variant Database Consortium, CKCS, Cavalier King Charles Spaniel, Research Paper, OMIM, Online Mendelian Inheritance in Man

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::46700f034c9f08a1896a11a2aeaaf926
https://pubmed.ncbi.nlm.nih.gov/34584846

المؤلفون: Asma Labaali, Laila Chabaa, Aicha Ezoubeiri, Naima Fdil, Jean-François Benoist

المصدر: PAMJ Clinical Medicine, Vol 1, Iss 55 (2019)

مصطلحات موضوعية: Genetics, genetic structures, business.industry, Hereditary xanthinuria, lcsh:R, lcsh:Medicine, musculoskeletal system, medicine.disease, hereditary xanthinuria, eye diseases, chemistry.chemical_compound, hypo-uric acid, chemistry, xanthine, hypoxanthine, medicine, sense organs, Xanthinuria, Xanthine oxidase, business, human activities, xanthine oxidase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e055430bc68641380ece1141e673221
https://doaj.org/article/69fe52ce78f847f1a1bc9cdb3f536dcd

المؤلفون: Alpesh Goyal, Suraj Kubihal, Rajesh Khadgawat, Rajiv Singla

المصدر: Indian Pediatrics

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Purine-Pyrimidine Metabolism, Inborn Errors, Maternal and child health, Long term follow up, business.industry, Clical Case Letters, Hereditary xanthinuria, MEDLINE, Urolithiasis, Urogenital Abnormalities, Pediatrics, Perinatology and Child Health, Pediatric surgery, medicine, Humans, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2842b8fb036acf98dc82b1b6f98f786d
https://pubmed.ncbi.nlm.nih.gov/32444521

المؤلفون: Kimiyoshi Ichida, Yoshihiro Amaya, Ken Okamoto, Takeshi Nishino

المصدر: International Journal of Molecular Sciences; Volume 13; Issue 11; Pages: 15475-15495

مصطلحات موضوعية: xanthine dehydrogenase, xanthine oxidase, xanthine oxidoreductase, xanthine oxidoreductase deficiency, flavoproteins, xanthinuria, hereditary xanthinuria, gout

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms131115475

الاتاحة: https://doi.org/10.3390/ijms131115475

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: Mohammed Chemsi, Asmaa Biaz, Samira El Machtani-Idrissi, Sophia Tazi, Sanae Bouhsain, Abdellah Dami

المصدر: Clinical Laboratory. 66

مصطلحات موضوعية: Purine, business.industry, Metabolic disorder, Hereditary xanthinuria, medicine.disease, Bioinformatics, Asymptomatic, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Purine metabolism disorder, chemistry, medicine, Uric acid, Abnormality, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9667e1b9360b2e6d849447be2ce207f8
https://doi.org/10.7754/clin.lab.2020.200253

المؤلفون: Kimiyoshi Ichida, Yoshihiko Shinohara, Yoshikazu Kawakami, Yutaka Fujiwara

المصدر: Internal Medicine. 2012, 51(14):1879

المؤلفون: Kazukiyo Nakao, Kazuomi Kario, Takefumi Matsuo, 中尾 一清, 松尾 武文, 苅尾 七臣

المصدر: 日本老年医学会雑誌 / Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics. 1991, 28(1):63

المؤلفون: Elif Çomak, Sema Akman, Kimiyoshi Ichida, Gülşah Kaya Aksoy, Mustafa Koyun

المصدر: Pediatric Nephrology. 34:1223-1224

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Renal stone, business.industry, Hereditary xanthinuria, MEDLINE, medicine.disease, Chronic kidney failure, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Intronic Mutation, Hypouricemia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beb9faaba895c65a9dfe7970377265bc
https://doi.org/10.1007/s00467-018-4163-4

المؤلفون: Manef Gasmi, Jaouida Abdelmoula, Mehdi Mrad, Amira Mohsni, Eya Kalaie, Mouna Bouksila, Kahena Bouzid, A. Bahlous

المصدر: Enzyme Engineering.

مصطلحات موضوعية: medicine.medical_specialty, Kidney, business.industry, Urinary Lithiasis, Hereditary xanthinuria, medicine.disease, Bioinformatics, Xanthine, Gastroenterology, chemistry.chemical_compound, Purine metabolism disorder, medicine.anatomical_structure, Urinary excretion, chemistry, Internal medicine, medicine, Hypouricemia, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6ffd53eec1b56c68ef0c22bfe0cc731f
https://doi.org/10.4172/2329-6674.1000139

المؤلفون: H. Tankawa, T. Matsuo, K. Kario

المصدر: International Urology and Nephrology. 23:317-323

مصطلحات موضوعية: Urinary Bladder Calculi, Renal stone, business.industry, Urology, Hereditary xanthinuria, Anatomy, Xanthine, Kidney Calculi, Xanthine oxidase activity, chemistry.chemical_compound, chemistry, Nephrology, Xanthines, Microscopy, Microscopy, Electron, Scanning, Ultrastructure, Humans, Medicine, Surface structure, Female, business, Aged, Xanthine urolithiasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7712ce3639178e6208c075c72b1dfa
https://doi.org/10.1007/bf02549601

المؤلفون: Akihiro Nagae, Norio Kono, Masanori Kawachi, Eiki Murakami, Kunio Hiwada, Yuzuru Sato

المصدر: Japanese Journal of Medicine. 29:287-291

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Duodenum, Xanthine, Asymptomatic, chemistry.chemical_compound, Internal medicine, medicine, Humans, Hypouricemia, Xanthine oxidase, Hypoxanthine, business.industry, Hereditary xanthinuria, Heterozygote advantage, General Medicine, medicine.disease, Molecular biology, Uric Acid, Endocrinology, chemistry, Hypoxanthines, Xanthines, Concomitant, Female, medicine.symptom, business, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb972e6d03269fdb42610727779e5a3
https://doi.org/10.2169/internalmedicine1962.29.287

المؤلفون: Penick F.J. Jiménez, Avilés J. Moreno, Tardido A. Rodríguez, Espona C. García, Avellaneda E. Cao, Lafuente L. Sala, Holgado A.M. Hernando, Chinchilla R. Montoya, Sancirilo M. Castañeda

المصدر: European Urology Supplements. 14:43

مصطلحات موضوعية: Purine, chemistry.chemical_compound, chemistry, business.industry, Urology, Hereditary xanthinuria, Cancer research, medicine, Adenine phosphoribosyltransferase deficiency, Presentation (obstetrics), medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4436b2b250e5055a9deaf3db7f684871
https://doi.org/10.1016/s1569-9056(15)30115-9

المؤلفون: J. Sastre, C. Calabuig, B. Roca, M. Arenas

المصدر: Journal of inherited metabolic disease. 15(6)

مصطلحات موضوعية: Aged, 80 and over, Male, medicine.medical_specialty, Xanthine Oxidase, business.industry, Hereditary xanthinuria, medicine.disease, Dermatology, Endocrinology, Ehlers–Danlos syndrome, Aminoaciduria, Internal medicine, Xanthines, Genetics, medicine, Humans, Ehlers-Danlos Syndrome, Xanthinuria, Metabolic disease, business, Genetics (clinical), Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13bfd271acf9fde38334d94a4916c3da
https://pubmed.ncbi.nlm.nih.gov/1293384

المؤلفون: Masakatsu Saji, Takeshi Nishino, Hideaki Okabe, T. Hosoya, Ichida K, Naoyuki Kamatani

المصدر: Clinical Biochemistry. 30:261

مصطلحات موضوعية: Genetics, Xanthine Dehydrogenase Gene, Clinical Biochemistry, Hereditary xanthinuria, Nonsense mutation, Identification (biology), General Medicine, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f57d782c58040ea239f3a4e66fc1bd56
https://doi.org/10.1016/s0009-9120(97)87709-0

المؤلفون: T. S. Yen, Tzong-Shinn Chu, Y. L. Liu

المصدر: Journal of Inherited Metabolic Disease. 16:899-899

مصطلحات موضوعية: Adult, Xanthine Oxidase, medicine.medical_specialty, Pediatrics, business.industry, Hereditary xanthinuria, medicine.disease, Human genetics, Endocrinology, Tubulopathy, Xanthines, Internal medicine, Aminoaciduria, Genetics, medicine, Humans, Female, Spectrophotometry, Ultraviolet, Xanthinuria, business, Chromatography, High Pressure Liquid, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7832b662c313e1ddfa41df57545180
https://doi.org/10.1007/bf00714289

المؤلفون: Seiichiro Tarui, Naoko Hara, Yuya Yamada, Miyazaki T, Himeno S, Masanori Kawachi, Norio Kono, Ikuo Mineo, Hiroaki Kiyokawa

المصدر: Nihon Naika Gakkai Zasshi. 77:47-52

مصطلحات موضوعية: Adult, Male, Heterozygote, Peptic Ulcer, Purine-Pyrimidine Metabolism, Inborn Errors, medicine.medical_specialty, Gout, Gastroenterology, chemistry.chemical_compound, Internal medicine, medicine, Humans, Hypouricemia, Xanthine oxidase, business.industry, Hereditary xanthinuria, Heterozygote advantage, General Medicine, medicine.disease, Uric Acid, Biochemistry, chemistry, Xanthines, Peptic ulcer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db349d730871be3fd5b5ccfb432cc80
https://doi.org/10.2169/naika.77.47