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Article

Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2016

Harshman Lyndsay A, Ng Bobby G, Freeze Hudson H, Trapane Pamela, Dolezal Anna, Brophy Patrick D, Brumbaugh Jane E

Abstract excerpt

Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27325525
DOI: 10.1111/ped.12988
PMCID: PMC4996748

Genes

ALG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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