ArticleJIMD reports2017
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.Journal of inherited metabolic disease · 2020Pooled it
- Galactose tolerance in adults with classical galactosaemia. Considering the gaps.Molecular genetics and metabolism reports · 2026Article
- Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.JIMD reports · 2025Article
- Unique Glycans in Synaptic Glycoproteins in Mouse Brain.ACS chemical neuroscience · 2024Article
- Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.JIMD reports · 2024Article
- Natural history of three late-diagnosed classic Galactosemia patients.Molecular genetics and metabolism reports · 2024Article
- Brain function in classic galactosemia, a galactosemia network (GalNet) members review.Frontiers in genetics · 2024Review
- Determination of the lactose and galactose content of common foods: Relevance to galactosemia.Food science & nutrition · 2022Article
- Harnessing the Power of Purple Sweet Potato Color andInternational journal of molecular sciences · 2022Article
- Sphingolipid depletion suppresses UPR activation and promotes galactose hypersensitivity in yeast models of classic galactosemia.Biochimica et biophysica acta. Molecular basis of disease · 2022Article
- Discovery of Novel Inhibitors Targeting Multi-UDP-hexose Pyrophosphorylases as Anticancer Agents.Molecules (Basel, Switzerland) · 2020Article
- Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC medical genetics · 2019Article
- Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia.Biochimica et biophysica acta. Molecular basis of disease · 2019Article
- Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.Annals of human genetics · 2019Article
- The natural history of classic galactosemia: lessons from the GalNet registry.Orphanet journal of rare diseases · 2019Article
- Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.Journal of inherited metabolic disease · 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
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology. The gross N-glycosylation assembly defects observed in the untreated neonate correct over time with treatment. However, N-glycosylation processing defects persist in treated children and adults.Congenital disorders of glycosylation (CDG) are a large group of over 100 inherited disorders affecting largely N- and O-glycosylation.In this review, we compare the clinical features observed in galactosaemia with a number of predominant CDG conditions.We also summarize the N-glycosylation abnormalities, which we have described in galactosaemia adult and paediatric patients, using an automated high-throughput HILIC-UPLC analysis of galactose incorporation into serum IgG with analysis of the corresponding N-glycan gene expression patterns and the affected pathways.
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.