ArticleEuropean journal of pediatrics1995
Galactitol in galactosemia.
Article in European journal of pediatrics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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Who cites it
17 citing papers in PubMed, 47 citations in OpenAlex.
- Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase.Glycobiology · 2026Article
- Sex dimorphism in the cardiovascular responses to d-galactose-induced accelerated aging: effects of HO-1 modulation.GeroScience · 2026Article
- A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two SiblingsJournal of clinical research in pediatric endocrinology · 2025Article
- 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
- Neuroactive metabolites and bile acids are altered in extremely premature infants with brain injury.Cell reports. Medicine · 2024Article
- Baselining physiological parameters in three muscles across three equine breeds. What can we learn from the horse?Frontiers in physiology · 2024Article
- Classical Hereditary galactosemia: findings in patients and animal models.Metabolic brain disease · 2024Review
- Sweet and sour: an update on classic galactosemia.Journal of inherited metabolic disease · 2017Review
- Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.Data in brief · 2015Article
- Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.Molecular genetics and metabolism reports · 2015Article
- Structure of 2-oxo-3-deoxygalactonate kinase from Klebsiella pneumoniae.Acta crystallographica. Section D, Biological crystallography · 2011Article
- Classical galactosaemia revisited.Journal of inherited metabolic disease · 2006Review
- Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.Journal of inherited metabolic disease · 2003Article
- Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.Journal of inherited metabolic disease · 2001Article
- Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.American journal of human genetics · 2001Article
- Komrower Lecture. Galactosaemia today: the enigma and the challenge.Journal of inherited metabolic disease · 1998Article
- Galactosemia unsolved.European journal of pediatrics · 1995Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion. After treatment, galactose excretion returned to normal in all patients whereas galactitol excretion (45-900 mmol/mol creatinine) remained above the age-matched control range. The excretion of galactitol (96-170 mmol/mol creatinine) in untreated compound heterozygotes was much lower although still above the age-matched control levels, and it returned to normal after treatment. In untreated classical galactosemia patients the galactitol in plasma (120-500 mumol/l) was markedly elevated (controls 0.08-0.86 mumol/l); under treatment, the galactitol concentrations (4.7-20 mumol/l) remained above the control range in all. There was no correlation with age nor with galactose-1-phosphate and UDP-galactose levels. Two untreated compound heterozygotes had elevated plasma galactitol (6.0 and 63 mumol/l) which, when treated, returned to normal.
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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 Socratic graph.