المؤلفون: Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA. ableyer@wakehealth.edu.; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. ableyer@wakehealth.edu., Wolf MT; Pediatric Nephrology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390-0936, USA., Kidd KO; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA.; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Zivna M; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kmoch S; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, 27157, USA.; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 May; Vol. 37 (5), pp. 933-946. Date of Electronic Publication: 2021 May 22.

نوع المنشور: Journal Article; Review; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Gout* , Polycystic Kidney Diseases* , Renal Insufficiency, Chronic*, Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Mutation ; Uromodulin/genetics

المؤلفون: Eckardt KU; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Alper SL; Divisions of Nephrology and Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA., Antignac C; INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Chauveau D; Département de Néphrologie et Transplantation d'organes, CHU Rangueil, Toulouse, France., Dahan K; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Deltas C; Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus., Hosking A; UKD Foundation, New York, New York, USA., Kmoch S; Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic., Rampoldi L; Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, Dulbecco Telethon Institute c/o IRCCS San Raffaele Scientific Institute, Milan, Italy., Wiesener M; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Wolf MT; Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Devuyst O; Institute of Physiology, University of Zurich, Zurich, Switzerland.

مؤلفون مشاركون: Kidney Disease: Improving Global Outcomes

المصدر: Kidney international [Kidney Int] 2015 Oct; Vol. 88 (4), pp. 676-83. Date of Electronic Publication: 2015 Mar 04.

نوع المنشور: Consensus Development Conference; Journal Article; Practice Guideline; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Gout*/classification , Gout*/diagnosis , Gout*/genetics , Gout*/therapy , Hyperuricemia*/classification , Hyperuricemia*/diagnosis , Hyperuricemia*/genetics , Hyperuricemia*/therapy , Kidney Diseases*/classification , Kidney Diseases*/diagnosis , Kidney Diseases*/genetics , Kidney Diseases*/therapy , Polycystic Kidney, Autosomal Dominant*/classification , Polycystic Kidney, Autosomal Dominant*/diagnosis , Polycystic Kidney, Autosomal Dominant*/genetics , Polycystic Kidney, Autosomal Dominant*/therapy, Nephrology/*standards , Uromodulin/*deficiency, Consensus ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Humans ; Mutation ; Phenotype ; Predictive Value of Tests ; Terminology as Topic ; Treatment Outcome ; Uromodulin/classification ; Uromodulin/genetics

SCR Disease Name: Juvenile gout; Medullary Cystic Kidney Disease 2; Medullary cystic kidney disease 1

المؤلفون: Bleyer AJ, Kmoch S

المصدر: Advances in chronic kidney disease [Adv Chronic Kidney Dis] 2012 Nov; Vol. 19 (6), pp. 356-7.

نوع المنشور: Editorial; Introductory Journal Article

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 101209214 Publication Model: Print Cited Medium: Internet ISSN: 1548-5609 (Electronic) Linking ISSN: 15485595 NLM ISO Abbreviation: Adv Chronic Kidney Dis Subsets: MEDLINE

مواضيع طبية MeSH: Gout/*physiopathology , Uric Acid/*analysis, Humans

عنوان ترانسليتريتد: Diagnostické aspekty familiární juvenilní hyperurikemické nefropatie.

المؤلفون: Stibůrková B; Ustav dĕdicných metabolických poruch 1. LF UK, Praha. blanka.stiburkova@centrum.cz, Sebesta I, Kmoch S

المصدر: Casopis lekaru ceskych [Cas Lek Cesk] 2005; Vol. 144 (7), pp. 466-71.

نوع المنشور: English Abstract; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Ceskoslovenska Lekarska Spolecnost Country of Publication: Czech Republic NLM ID: 0004743 Publication Model: Print Cited Medium: Print ISSN: 0008-7335 (Print) Linking ISSN: 00087335 NLM ISO Abbreviation: Cas Lek Cesk Subsets: MEDLINE

مواضيع طبية MeSH: Gout/*genetics , Hyperuricemia/*genetics , Kidney Diseases/*genetics, Gout/diagnosis ; Humans ; Hyperuricemia/diagnosis ; Kidney Diseases/diagnosis ; Pedigree

المؤلفون: Stibůrková B; Institute for Inherited Metabolic Disorders, 128 00 Prague 2, Czech Republic., Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S

المصدر: American journal of human genetics [Am J Hum Genet] 2000 Jun; Vol. 66 (6), pp. 1989-94. Date of Electronic Publication: 2000 Apr 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Heterogeneity* , Thyroid Hormones*, Chromosomes, Human, Pair 16/*genetics , Gout/*complications , Gout/*genetics , Renal Insufficiency/*complications , Renal Insufficiency/*genetics , Uric Acid/*metabolism, Adolescent ; Adult ; Age of Onset ; Carrier Proteins/genetics ; Child ; Chromosome Mapping ; Crossing Over, Genetic/genetics ; Czech Republic ; Female ; Genes, Dominant/genetics ; Gout/metabolism ; Gout/urine ; Haplotypes/genetics ; Humans ; Lod Score ; Male ; Membrane Proteins/genetics ; Middle Aged ; Mucoproteins/genetics ; Pedigree ; Penetrance ; Renal Insufficiency/metabolism ; Renal Insufficiency/urine ; Uric Acid/blood ; Uromodulin ; Thyroid Hormone-Binding Proteins

المؤلفون: Eckardt, K. -U, Alper, S. L., Antignac, C., Bleyer, A. J., Chauveau, D., Dahan, K., Constantinou-Deltas, Constantinos D., Hosking, A., Kmoch, S., Rampoldi, L., Wiesener, M., Wolf, M. T., Devuyst, O.

المساهمون: Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169], Eckardt, Ku, Alper, Sl, Antignac, C, Bleyer, Aj, Chauveau, D, Dahan, K, Deltas, C, Hosking, A, Kmoch, S, Rampoldi, L, Wiesener, M, Wolf, Mt, Devuyst, O

المصدر: Kidney international
Kidney Int.

مصطلحات موضوعية: Pathology, Tamm–Horsfall protein, glomerulus filtration rate, genetic association, Gout, uromodulin, kidney disease, DNA Mutational Analysis, treatment contraindication, Disease, hyperuricemia, Medullary cystic kidney disease, preprorenin, REN gene, Tamm Horsfall glycoprotein, Pathognomonic, medical terminology, genetics, gene mutation, autosomal dominant tubulointerstitial kidney disease, pathophysiology, HNF1B gene, biology, predictive value, hepatocyte nuclear factor-1β, consensus development, genetic screening, deficiency, HNF1B, Polycystic Kidney, Autosomal Dominant, genetic code, Phenotype, Treatment Outcome, priority journal, classification, diagnostic test, Nephrology, standards, nomenclature, Kidney Diseases, medicine.medical_specialty, Consensus, phenotype, disease classification, nephrology, kidney transplantation, MUC1 gene, Hyperuricemia, Article, medication therapy management, UMOD gene, gout, Predictive Value of Tests, Terminology as Topic, Uromodulin, medicine, follow up, Humans, Genetic Predisposition to Disease, human, business.industry, practice guideline, hepatocyte nuclear factor 1beta, medicine.disease, mucin 1, clinical feature, renin, consensus, nephronophthisis, Mutation, biology.protein, Tubulointerstitial fibrosis, treatment outcome, Diagnosis Classification, genetic disorder, mutation, business, genetic predisposition, dna mutational analysis, Kidney disease, mucin-1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee7df157d3376e08697dad96b0d3b26
https://pubmed.ncbi.nlm.nih.gov/25738250

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