ArticleJIMD reports2016
Further Delineation of the ALG9-CDG Phenotype.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.
What it found
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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
8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.Diagnostics (Basel, Switzerland) · 2021Review
- Congenital Disorders of Glycosylation: What Clinicians Need to Know?Frontiers in pediatrics · 2021Review
- ALG9-CDG: New clinical case and review of the literature.Molecular genetics and metabolism reports · 2017Article
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.JIMD reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, failure to thrive, global developmental disability, and skeletal dysplasia. One patient presented with nonimmune hydrops fetalis. A brain MRI revealed global atrophy with delayed myelination. Exome sequencing identified a novel homozygous mutation c.1075G>A, p.E359K of the ALG9 gene. The results of our analysis of these patients expand the knowledge of ALG9-CDG phenotype.
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.