Atıf İçin Kopyala
Yilmaz E. K., Saygili S., GÜLHAN B., Canpolat N., KARABAY BAYAZIT A., KILIÇ B. D., ...Daha Fazla
PEDIATRIC NEPHROLOGY, cilt.37, sa.8, ss.1855-1866, 2022 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
37
Sayı:
8
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Basım Tarihi:
2022
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Doi Numarası:
10.1007/s00467-021-05371-7
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Dergi Adı:
PEDIATRIC NEPHROLOGY
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
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Sayfa Sayıları:
ss.1855-1866
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Anahtar Kelimeler:
Children, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Intrafamilial variability, Prognosis, PLC epsilon 1, Treatment, PLCE1, MUTATIONS, NEPHRIN, IQGAP1, GENE
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Hacettepe Üniversitesi Adresli:
Evet
Özet
Background The phenotypic and genotypic spectrum and kidney outcome of PLC epsilon 1 -related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLC epsilon 1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome.