Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
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| Title: | Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy. |
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| Authors: | Drovandi S; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany; Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Ospedale Policlinico San Martino and University of Genoa, Genoa, Italy; Division of Nephrology, Dialysis, Transplantation, Giannina Gaslini Children's Hospital, Genoa, Italy. Electronic address: Stefania.drovandi@gmail.com., Lipska-Ziętkiewicz BS; Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland; Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland., Ozaltin F; Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Emma F; Department of Pediatric Subspecialties, Division of Nephrology and Dialysis, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy., Gulhan B; Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Boyer O; APHP, Necker-Enfants Malades Hospital, Pediatric Nephrology, MARHEA and SNI Reference Centers, Paris, France; Imagine Institute, Paris University, Paris, France., Trautmann A; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., Ziętkiewicz S; Intercollegiate Faculty of Biotechnology, University of Gdańsk, Gdańsk, Poland., Xu H; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Shen Q; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Rao J; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Heemann U; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Stenton SL; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Tsygin AN; Department of Pediatric Nephrology, National Medical and Research Centre for Children's Health, Moscow, Russia., Ng KH; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Fomina S; Department of Pediatric Nephrology, Institute of Nephrology of NAMS of Ukraine, Kiev (Kyiv), Ukraine., Benetti E; Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy., Aurelle M; Department of Pediatric Nephrology, University Children's Hospital, Lyon, France., Prikhodina L; Research & Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia., Schijvens AM; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Nijmegen, The Netherlands., Tabatabaeifar M; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany., Jankowski M; Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland., Baiko S; Department of Pediatrics, Belarusian State Medical University, Minsk, Belarus., Mao J; Department of Nephrology, The Children's Hospital of Zhejiang, University School of Medicine, Hangzhou, China., Feng C; Department of Nephrology, The Children's Hospital of Zhejiang, University School of Medicine, Hangzhou, China., Deng F; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China., Rousset-Rouviere C; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France., Stańczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Insitute, Lodz, Poland., Bałasz-Chmielewska I; Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland., Fila M; Pediatric Nephrology Department, CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France., Durkan AM; Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Levart TK; Department of Nephrology, Division of Paediatrics, University Medical Centre, Bohoričeva, Ljubljana, Slovenia., Dursun I; Department of Pediatrics, Division of Nephrology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Esfandiar N; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Haas D; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Bjerre A; Division of Pediatric and Adolescent Medecine, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway., Anarat A; Department of Pediatric Nephrology, Çukurova University, Adana, Turkey., Benz MR; Pediatric Nephrology, Pediatric Medicine Dachau, Dachau, Germany., Talebi S; Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Hooman N; Department of Pediatrics, Aliasghar Clinical Research Development Center, School of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran., Ariceta G; Department of Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain., Schaefer F; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. |
| Corporate Authors: | PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium |
| Source: | Kidney international [Kidney Int] 2022 Sep; Vol. 102 (3), pp. 592-603. Date of Electronic Publication: 2022 Apr 26. |
| Publication Type: | Journal Article; Systematic Review; Research Support, Non-U.S. Gov't |
| Journal Info: | 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 |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35483523 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Drovandi+S%22">Drovandi S</searchLink>; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany; Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Ospedale Policlinico San Martino and University of Genoa, Genoa, Italy; Division of Nephrology, Dialysis, Transplantation, Giannina Gaslini Children's Hospital, Genoa, Italy. Electronic address: Stefania.drovandi@gmail.com.<br /><searchLink fieldCode="AU" term="%22Lipska-Ziętkiewicz+BS%22">Lipska-Ziętkiewicz BS</searchLink>; Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland; Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Ozaltin+F%22">Ozaltin F</searchLink>; Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Emma+F%22">Emma F</searchLink>; Department of Pediatric Subspecialties, Division of Nephrology and Dialysis, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gulhan+B%22">Gulhan B</searchLink>; Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Boyer+O%22">Boyer O</searchLink>; APHP, Necker-Enfants Malades Hospital, Pediatric Nephrology, MARHEA and SNI Reference Centers, Paris, France; Imagine Institute, Paris University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Trautmann+A%22">Trautmann A</searchLink>; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Ziętkiewicz+S%22">Ziętkiewicz S</searchLink>; Intercollegiate Faculty of Biotechnology, University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Xu+H%22">Xu H</searchLink>; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Shen+Q%22">Shen Q</searchLink>; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Rao+J%22">Rao J</searchLink>; Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Riedhammer+KM%22">Riedhammer KM</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Heemann+U%22">Heemann U</searchLink>; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Hoefele+J%22">Hoefele J</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Tsygin+AN%22">Tsygin AN</searchLink>; Department of Pediatric Nephrology, National Medical and Research Centre for Children's Health, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ng+KH%22">Ng KH</searchLink>; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Fomina+S%22">Fomina S</searchLink>; Department of Pediatric Nephrology, Institute of Nephrology of NAMS of Ukraine, Kiev (Kyiv), Ukraine.<br /><searchLink fieldCode="AU" term="%22Benetti+E%22">Benetti E</searchLink>; Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Aurelle+M%22">Aurelle M</searchLink>; Department of Pediatric Nephrology, University Children's Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Prikhodina+L%22">Prikhodina L</searchLink>; Research & Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Schijvens+AM%22">Schijvens AM</searchLink>; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatric Nephrology, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tabatabaeifar+M%22">Tabatabaeifar M</searchLink>; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Jankowski+M%22">Jankowski M</searchLink>; Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Baiko+S%22">Baiko S</searchLink>; Department of Pediatrics, Belarusian State Medical University, Minsk, Belarus.<br /><searchLink fieldCode="AU" term="%22Mao+J%22">Mao J</searchLink>; Department of Nephrology, The Children's Hospital of Zhejiang, University School of Medicine, Hangzhou, China.<br /><searchLink fieldCode="AU" term="%22Feng+C%22">Feng C</searchLink>; Department of Nephrology, The Children's Hospital of Zhejiang, University School of Medicine, Hangzhou, China.<br /><searchLink fieldCode="AU" term="%22Deng+F%22">Deng F</searchLink>; Department of Nephrology, Anhui Provincial Children's Hospital, Hefei, China.<br /><searchLink fieldCode="AU" term="%22Rousset-Rouviere+C%22">Rousset-Rouviere C</searchLink>; Department of Multidisciplinary Pediatrics, Pediatric Nephrology Unit, La Timone, University Hospital of Marseille, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Stańczyk+M%22">Stańczyk M</searchLink>; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Insitute, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Bałasz-Chmielewska+I%22">Bałasz-Chmielewska I</searchLink>; Department of Pediatrics, Nephrology and Hypertension, Faculty of Medicine, Medical University of Gdańsk, Gdańsk, Poland.<br /><searchLink fieldCode="AU" term="%22Fila+M%22">Fila M</searchLink>; Pediatric Nephrology Department, CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Durkan+AM%22">Durkan AM</searchLink>; Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Levart+TK%22">Levart TK</searchLink>; Department of Nephrology, Division of Paediatrics, University Medical Centre, Bohoričeva, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Dursun+I%22">Dursun I</searchLink>; Department of Pediatrics, Division of Nephrology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Esfandiar+N%22">Esfandiar N</searchLink>; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Haas+D%22">Haas D</searchLink>; Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Bjerre+A%22">Bjerre A</searchLink>; Division of Pediatric and Adolescent Medecine, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Anarat+A%22">Anarat A</searchLink>; Department of Pediatric Nephrology, Çukurova University, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Benz+MR%22">Benz MR</searchLink>; Pediatric Nephrology, Pediatric Medicine Dachau, Dachau, Germany.<br /><searchLink fieldCode="AU" term="%22Talebi+S%22">Talebi S</searchLink>; Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Hooman+N%22">Hooman N</searchLink>; Department of Pediatrics, Aliasghar Clinical Research Development Center, School of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Ariceta+G%22">Ariceta G</searchLink>; Department of Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Schaefer+F%22">Schaefer F</searchLink>; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22PodoNet+Consortium%22">PodoNet Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22mitoNET+Consortium%22">mitoNET Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22CCGKDD+Consortium%22">CCGKDD Consortium</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220323470%22">Kidney international</searchLink> [Kidney Int] 2022 Sep; Vol. 102 (3), pp. 592-603. <i>Date of Electronic Publication: </i>2022 Apr 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Systematic Review; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0323470 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-1755 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200852538%22">00852538 </searchLink><i>NLM ISO Abbreviation: </i>Kidney Int <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.kint.2022.02.040 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 592 Titles: – TitleFull: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Drovandi S – PersonEntity: Name: NameFull: Lipska-Ziętkiewicz BS – PersonEntity: Name: NameFull: Ozaltin F – PersonEntity: Name: NameFull: Emma F – PersonEntity: Name: NameFull: Gulhan B – PersonEntity: Name: NameFull: Boyer O – PersonEntity: Name: NameFull: Trautmann A – PersonEntity: Name: NameFull: Ziętkiewicz S – PersonEntity: Name: NameFull: Xu H – PersonEntity: Name: NameFull: Shen Q – PersonEntity: Name: NameFull: Rao J – PersonEntity: Name: NameFull: Riedhammer KM – PersonEntity: Name: NameFull: Heemann U – PersonEntity: Name: NameFull: Hoefele J – PersonEntity: Name: NameFull: Stenton SL – PersonEntity: Name: NameFull: Tsygin AN – PersonEntity: Name: NameFull: Ng KH – PersonEntity: Name: NameFull: Fomina S – PersonEntity: Name: NameFull: Benetti E – PersonEntity: Name: NameFull: Aurelle M – PersonEntity: Name: NameFull: Prikhodina L – PersonEntity: Name: NameFull: Schijvens AM – PersonEntity: Name: NameFull: Tabatabaeifar M – PersonEntity: Name: NameFull: Jankowski M – PersonEntity: Name: NameFull: Baiko S – PersonEntity: Name: NameFull: Mao J – PersonEntity: Name: NameFull: Feng C – PersonEntity: Name: NameFull: Deng F – PersonEntity: Name: NameFull: Rousset-Rouviere C – PersonEntity: Name: NameFull: Stańczyk M – PersonEntity: Name: NameFull: Bałasz-Chmielewska I – PersonEntity: Name: NameFull: Fila M – PersonEntity: Name: NameFull: Durkan AM – PersonEntity: Name: NameFull: Levart TK – PersonEntity: Name: NameFull: Dursun I – PersonEntity: Name: NameFull: Esfandiar N – PersonEntity: Name: NameFull: Haas D – PersonEntity: Name: NameFull: Bjerre A – PersonEntity: Name: NameFull: Anarat A – PersonEntity: Name: NameFull: Benz MR – PersonEntity: Name: NameFull: Talebi S – PersonEntity: Name: NameFull: Hooman N – PersonEntity: Name: NameFull: Ariceta G – PersonEntity: Name: NameFull: Schaefer F IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2022 Sep Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1523-1755 Numbering: – Type: volume Value: 102 – Type: issue Value: 3 Titles: – TitleFull: Kidney international Type: main |
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