Literature DB >> 12937245

End-stage renal failure in Lowe syndrome.

Leila Tricot1, Yasmina Yahiaoui, Luis Teixeira, Leila Benabdallah, Eugene Rothschild, Jean-Pierre Juquel, Veronique Satre, Jean-Pierre Grünfeld, Dominique Chauveau.   

Abstract

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Year:  2003        PMID： 12937245     DOI： 10.1093/ndt/gfg294

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  7 in total

Review 1.  Congenital/inherited kidney diseases: how to identify them early and how to manage them.

Authors:  Jean-Pierre Grünfeld
Journal:  Clin Exp Nephrol       Date:  2005-09       Impact factor: 2.801

2.  Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

Authors:  Katsusuke Yamamoto; Yasuhiro Hasegawa; Yasuhisa Ohata; Kenichi Satomura; Yoshimi Mizoguchi; Tsunesuke Shimotsuji; Takehisa Yamamoto
Journal:  CEN Case Rep       Date:  2019-11-09

3.  OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

Authors:  Vladimir J Lozanovski; N Ristoska-Bojkovska; P Korneti; Z Gucev; V Tasic
Journal:  World J Pediatr       Date:  2011-08-07       Impact factor: 2.764

4.  Clinical and laboratory features of Macedonian children with OCRL mutations.

Authors:  Velibor Tasic; Vladimir J Lozanovski; Petar Korneti; Nadica Ristoska-Bojkovska; Vesna Sabolic-Avramovska; Zoran Gucev; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2011-01-20       Impact factor: 3.714

Review 5.  The oculocerebrorenal syndrome of Lowe: an update.

Authors:  Arend Bökenkamp; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-03-24       Impact factor: 3.714

6.  Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Authors:  Emilie Song; Na Luo; Jorge A Alvarado; Maria Lim; Cathleen Walnuss; Daniel Neely; Dan Spandau; Alireza Ghaffarieh; Yang Sun
Journal:  Sci Rep       Date:  2017-05-04       Impact factor: 4.379

7.  Lowe syndrome: a single center's experience in Korea.

Authors:  Hyun-Kyung Kim; Ja Hye Kim; Yoo-Mi Kim; Gu-Hwan Kim; Beom Hee Lee; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2014-03-31
  7 in total

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