ReviewBiomolecules2022
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Review in Biomolecules, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis 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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Primary ovarian insufficiency in Classic Galactosemia: a systematic review.Journal of endocrinological investigation · 2025Pooled it
- Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia.Cell communication and signaling : CCS · 2026Article
- Investigating and correcting a rare pathogenic mutation in GDF11.HGG advances · 2026Article
- Article
- Investigating the pathogenesis of urolithiasis through gut microbiome, plasma metabolome and inflammatory proteome: a mediation Mendelian randomization study.Clinical epigenetics · 2025Article
- Antioxidant Strategies for Age-Related Oxidative Damage in Dogs.Veterinary sciences · 2025Review
- GNE myopathy with premature ovarian failure: Case report and review of the literature.Molecular genetics and metabolism reports · 2025Article
- Galactose Impairs Motor Performance and Cerebellar Signaling in Young Male Wistar Rats.Molecular neurobiology · 2025Article
- Synergistic Toxicity of Combined Exposure to Acrylamide and Polystyrene Nanoplastics on the Gut-Liver Axis in Mice.Biology · 2025Article
- Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.Metabolites · 2025Article
- Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.JIMD reports · 2025Article
- Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.Orphanet journal of rare diseases · 2025Article
- Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.International journal of molecular sciences · 2025Article
- Single-cell transcriptomics reveals mechanisms ofFrontiers in cell and developmental biology · 2025Article
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- 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
- Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.BMC infectious diseases · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Effect of Protection Polymer Coatings on the Performance of an Amperometric Galactose Biosensor in Human Plasma.Biosensors · 2024Article
- Classic Galactosemia: Clinical and Computational Characterization of a NovelInternational journal of molecular sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defect constitutes the most frequent cause of galactosemia. Currently, galactosemia cannot be cured, but only treated by means of a diet with a reduced content of galactose and lactose. Although the diet is able to reverse the neonatal clinical picture, it does not prevent the development of long-term complications. This review provides an overview of galactose metabolism, molecular genetics, newborn screening and therapy of galactosemia. Novel treatments for galactosemia currently being investigated in (pre)clinical studies and potentially able to prevent long-term complications are also presented.
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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.