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

Julien Heinrich Park; Martin Weissensteiner; Oliver Wagner; Yoshinao Wada; Stephan Rust; Janine Reunert; Thorsten Marquardt

doi:10.1007/s00467-015-3070-1

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

Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9.

Authors

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

Affiliations

¹ Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany.
² Abteilung für Neonatologie, Landes- Frauen- und Kinderklinik Linz, Linz, Austria.
³ Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka University, Osaka, Japan.
⁴ Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany. marquat@uni-muenster.de.

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

No abstract available

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

Publication types

Comment

MeSH terms

Abnormalities, Multiple*
Glycosylation
Humans
Mutation
Nephrotic Syndrome / congenital*
Transferrin

Substances

Transferrin