Literature DB >> 33459931

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

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

Abstract

Entities:  

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

Year:  2021        PMID: 33459931     DOI: 10.1007/s00467-020-04901-z

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


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  1 in total

1.  [A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].

Authors:  P Maroteaux; R Humbel; G Strecker; J C Michalski; R Mande
Journal:  Arch Fr Pediatr       Date:  1978-10
  1 in total

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