Literature DB >> 25956699

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Julien Heinrich Park1, Martin Weissensteiner2, Oliver Wagner2, Yoshinao Wada3, Stephan Rust1, Janine Reunert1, Thorsten Marquardt4.   

Abstract

Entities:  

Keywords:  ALG1-CDG; Congenital disorders of glycosylation; Congenital nephrotic syndrome; Dysmorphism; Edema; Isoelectric focusing; Seizures; Transferrin

Mesh：

Substances：

Year:  2015        PMID： 25956699     DOI： 10.1007/s00467-015-3070-1

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


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  24 in total

1.  Hypothyroidism in children with steroid-resistant nephrotic syndrome.

Authors:  Amit Dagan; Roxana Cleper; Irit Krause; Danit Blumenthal; Miriam Davidovits
Journal:  Nephrol Dial Transplant       Date:  2011-12-13       Impact factor: 5.992

2.  Pierson syndrome - a rare cause of congenital nephrotic syndrome.

Authors:  Arul Premanand Lionel; Leni Kumar Joseph; Anna Simon
Journal:  Indian J Pediatr       Date:  2014-06-19       Impact factor: 1.967

3.  ALG1-CDG: a new case with early fatal outcome.

Authors:  A-K Rohlfing; S Rust; J Reunert; M Tirre; I Du Chesne; Sa Wemhoff; F Meinhardt; H Hartmann; A M Das; T Marquardt
Journal:  Gene       Date:  2013-10-21       Impact factor: 3.688

4.  Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.

Authors:  M S van der Knaap; R A Wevers; L Monnens; C Jakobs; J Jaeken; J A van Wijk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 5.  Congenital nephrotic syndrome.

Authors:  Hannu Jalanko
Journal:  Pediatr Nephrol       Date:  2007-10-30       Impact factor: 3.714

6.  Congenital nephrotic syndrome, an uncommon presentation of cytomegalovirus infection.

Authors:  H Rahman; A Begum; S Jahan; G Muinuddin; M M Hossain
Journal:  Mymensingh Med J       Date:  2008-07

Review 7.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

8.  Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome.

Authors:  Nayia Nicolaou; Coert Margadant; Sietske H Kevelam; Marc R Lilien; Michiel J S Oosterveld; Maaike Kreft; Albertien M van Eerde; Rolph Pfundt; Paulien A Terhal; Bert van der Zwaag; Peter G J Nikkels; Norman Sachs; Roel Goldschmeding; Nine V A M Knoers; Kirsten Y Renkema; Arnoud Sonnenberg
Journal:  J Clin Invest       Date:  2012-11-01       Impact factor: 14.808

9.  Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Authors:  Andrea Zühlsdorf; Julien Heinrich Park; Yoshinao Wada; Stephan Rust; Janine Reunert; Ingrid DuChesne; Marianne Grüneberg; Thorsten Marquardt
Journal:  Clin Biochem       Date:  2014-10-08       Impact factor: 3.281

10.  Renal cysts in the carbohydrate-deficient glycoprotein syndrome.

Authors:  E H Strøm; P Strømme; J Westvik; S J Pedersen
Journal:  Pediatr Nephrol       Date:  1993-06       Impact factor: 3.714
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