Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Saved in:
Bibliographic Details
Title: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
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
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 35483523
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35483523
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
ResultId 1