Buchumschlag

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Socie...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Lipska-Ziętkiewicz, Beata S. (VerfasserIn) , Ozaltin, Fatih (VerfasserIn) , Hölttä, Tuula (VerfasserIn) , Bockenhauer, Detlef (VerfasserIn) , Bérody, Sandra (VerfasserIn) , Levtchenko, Elena (VerfasserIn) , Vivarelli, Marina (VerfasserIn) , Webb, Hazel (VerfasserIn) , Haffner, Dieter (VerfasserIn) , Schaefer, Franz (VerfasserIn) , Boyer, Olivia (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 28 May 2020
In: European journal of human genetics
Year: 2020, Jahrgang: 28, Heft: 10, Pages: 1368-1378
ISSN:1476-5438
DOI:10.1038/s41431-020-0642-8
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41431-020-0642-8
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41431-020-0642-8
Volltext
Verfasserangaben:Beata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer

MARC

LEADER 00000caa a2200000 c 4500
001 1768418179
003 DE-627
005 20230426135800.0
007 cr uuu---uuuuu
008 210902s2020 xx |||||o 00| ||eng c
024 7 |a 10.1038/s41431-020-0642-8  |2 doi 
035 |a (DE-627)1768418179 
035 |a (DE-599)KXP1768418179 
035 |a (OCoLC)1295680483 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Lipska-Ziętkiewicz, Beata S.  |e VerfasserIn  |0 (DE-588)1079568670  |0 (DE-627)841245088  |0 (DE-576)452807875  |4 aut 
245 1 0 |a Genetic aspects of congenital nephrotic syndrome  |b a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group  |c Beata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer 
264 1 |c 28 May 2020 
300 |a 11 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 02.09.2021 
520 |a Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting with massive proteinuria within the first 3 months of life almost inevitably leading to end-stage kidney disease. The Work Group for the European Reference Network for Kidney Diseases (ERKNet) and the European Society for Pediatric Nephrology (ESPN) has developed consensus statement on genetic aspects of CNS diagnosis and management. The presented expert opinion recommends genetic diagnostics as the key diagnostic test to be ordered already during the initial evaluation of the patient, discusses which phenotyping workup should be performed and presents known genotype-phenotype correlations. 
700 1 |a Ozaltin, Fatih  |e VerfasserIn  |4 aut 
700 1 |a Hölttä, Tuula  |e VerfasserIn  |4 aut 
700 1 |a Bockenhauer, Detlef  |e VerfasserIn  |4 aut 
700 1 |a Bérody, Sandra  |e VerfasserIn  |4 aut 
700 1 |a Levtchenko, Elena  |e VerfasserIn  |4 aut 
700 1 |a Vivarelli, Marina  |e VerfasserIn  |4 aut 
700 1 |a Webb, Hazel  |e VerfasserIn  |4 aut 
700 1 |a Haffner, Dieter  |e VerfasserIn  |4 aut 
700 1 |a Schaefer, Franz  |d 1961-  |e VerfasserIn  |0 (DE-588)1023365383  |0 (DE-627)718365577  |0 (DE-576)366705598  |4 aut 
700 1 |a Boyer, Olivia  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t European journal of human genetics  |d Basingstoke : Stockton Press, 1998  |g 28(2020), 10, Seite 1368-1378  |h Online-Ressource  |w (DE-627)320443116  |w (DE-600)2005160-8  |w (DE-576)27386548X  |x 1476-5438  |7 nnas  |a Genetic aspects of congenital nephrotic syndrome a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group 
773 1 8 |g volume:28  |g year:2020  |g number:10  |g pages:1368-1378  |g extent:11  |a Genetic aspects of congenital nephrotic syndrome a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group 
856 4 0 |u https://doi.org/10.1038/s41431-020-0642-8  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.nature.com/articles/s41431-020-0642-8  |x Verlag  |z kostenfrei  |3 Volltext 
951 |a AR 
992 |a 20210902 
993 |a Article 
994 |a 2020 
998 |g 1023365383  |a Schaefer, Franz  |m 1023365383:Schaefer, Franz  |d 910000  |d 910500  |d 50000  |e 910000PS1023365383  |e 910500PS1023365383  |e 50000PS1023365383  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 10 
999 |a KXP-PPN1768418179  |e 3972526423 
BIB |a Y 
SER |a journal 
JSO |a {"title":[{"title":"Genetic aspects of congenital nephrotic syndrome","subtitle":"a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group","title_sort":"Genetic aspects of congenital nephrotic syndrome"}],"physDesc":[{"extent":"11 S."}],"relHost":[{"part":{"text":"28(2020), 10, Seite 1368-1378","volume":"28","extent":"11","pages":"1368-1378","year":"2020","issue":"10"},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"European journal of human genetics","subtitle":"the official journal of the European Society of Human Genetics","title":"European journal of human genetics"}],"id":{"zdb":["2005160-8"],"eki":["320443116"],"issn":["1476-5438"]},"recId":"320443116","type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"Genetic aspects of congenital nephrotic syndrome a consensus statement from the ERKNet-ESPN inherited glomerulopathy working groupEuropean journal of human genetics","origin":[{"publisherPlace":"Basingstoke","dateIssuedKey":"1998","dateIssuedDisp":"1998-","publisher":"Stockton Press"}],"corporate":[{"role":"isb","display":"European Society of Human Genetics"}],"note":["Gesehen am 20.11.18"],"pubHistory":["Nachgewiesen 6.1998 -"],"language":["eng"]}],"name":{"displayForm":["Beata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer"]},"origin":[{"dateIssuedDisp":"28 May 2020","dateIssuedKey":"2020"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"1768418179","id":{"eki":["1768418179"],"doi":["10.1038/s41431-020-0642-8"]},"person":[{"given":"Beata S.","role":"aut","family":"Lipska-Ziętkiewicz","display":"Lipska-Ziętkiewicz, Beata S."},{"display":"Ozaltin, Fatih","family":"Ozaltin","role":"aut","given":"Fatih"},{"given":"Tuula","display":"Hölttä, Tuula","family":"Hölttä","role":"aut"},{"given":"Detlef","family":"Bockenhauer","role":"aut","display":"Bockenhauer, Detlef"},{"display":"Bérody, Sandra","family":"Bérody","role":"aut","given":"Sandra"},{"given":"Elena","family":"Levtchenko","role":"aut","display":"Levtchenko, Elena"},{"given":"Marina","family":"Vivarelli","role":"aut","display":"Vivarelli, Marina"},{"display":"Webb, Hazel","role":"aut","family":"Webb","given":"Hazel"},{"display":"Haffner, Dieter","family":"Haffner","role":"aut","given":"Dieter"},{"given":"Franz","family":"Schaefer","role":"aut","display":"Schaefer, Franz"},{"given":"Olivia","role":"aut","family":"Boyer","display":"Boyer, Olivia"}],"language":["eng"],"note":["Gesehen am 02.09.2021"]} 
SRT |a LIPSKAZIETGENETICASP2820 

Ähnliche Einträge