ArticleBMJ case reports2015
Galactosaemia: an unusual cause of chronic bilirubin encephalopathy.
Article in BMJ case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Status of Newborn Screening and Inborn Errors of Metabolism in India.Indian journal of pediatrics · 2018Pooled it
- Severe neonatal hyperbilirubinaemia in European and Indian subcontinent descendent newborns: a retrospective cohort study.European journal of pediatrics · 2024Article
- Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.Frontiers in molecular biosciences · 2023Article
- Management of severe hyperbilirubinemia in the cholestatic neonate: a review and an approach.Journal of perinatology : official journal of the California Perinatal Association · 2022Review
- Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia.Pediatric research · 2018Article
- Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.Journal of advanced research · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Galactosaemia is a disorder of galactose metabolism in which raised levels of galactose and galactose-1-phosphate damage various organs. Although galactosaemia is a common metabolic liver disease in childhood, it is a rare cause of neonatal hyperbilirubinemia requiring intervention. We report an unusual case of neonatal galactosaemia that at presentation had features of acute bilirubin encephalopathy requiring exchange transfusion and at discharge had features of chronic bilirubin encephalopathy. This case report emphasises the need for timely suspicion and diagnosis of this disease for prevention of chronic morbidity.
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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 OpenQuestion graph.