Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers

Pediatr Nephrol. 2021 Jul;36(7):2055-2058. doi: 10.1007/s00467-020-04901-z. Epub 2021 Jan 18.

Authors

Özlem Ünal Uzun¹, Nurcan Cengiz², Büşra Çavdarlı³, Umut Bayrakçı⁴, Saba Kiremitçi⁵, Aynur Küçükçongar Yavaş⁴

Affiliations

¹ Kocaeli University, Pediatric Metabolism, Umuttepe Yerleşkesi, İzmit, Kocaeli, Turkey. unalozlem@gmail.com.
² Muğla Sıtkı Koçman University, Pediatric Nephrology, Muğla, Turkey.
³ Ankara City Hospital, Medical Genetics, Ankara, Turkey.
⁴ Ankara City Hospital, Pediatric Nephrology, Pediatric Metabolism, Ankara, Turkey.
⁵ Ankara University, Pathology, Ankara, Turkey.

PMID: 33459931
DOI: 10.1007/s00467-020-04901-z

No abstract available

Keywords: Cherry-red spot; Child; Dysostosis multiplex; Kidney disease; Lysosomal storage disorder; NEU1 mutation; Nephrosialidosis.