ArticlePediatrics international : official journal of the Japan Pediatric Society2016
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.
Article in Pediatrics international : official journal of the Japan Pediatric Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Normal transferrin glycosylation does not rule out severe ALG1 deficiency.JIMD reports · 2024Article
- A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.Molecular genetics & genomic medicine · 2023Review
- Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.Scientific reports · 2022Article
- ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.Molecular syndromology · 2022Article
- ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.Frontiers in genetics · 2021Article
- Peritoneal dialysis outcomes in patients with nephrotic syndrome: a propensity score-matched cohort study.Renal failure · 2020Article
- Podocyte-Specific Sialylation-Deficient Mice Serve as a Model for Human FSGS.Journal of the American Society of Nephrology : JASN · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
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 neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS. Furthermore, we briefly review rare existing case reports documenting congenital NS in patients with mutations in ALG1, and treatment strategies, including novel use of peritoneal dialysis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.