Galactosaemia

disorder

SNOMED 190745006CUI C0016952

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Galactosemias" from the MEDLINE/PubMed database.

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Primary ovarian insufficiency in Classic Galactosemia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Endocrinol Invest · 2025

PMID: 39821528Meta-Analysis

Newborn screening for galactosaemia.

[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2020

PMID: 32567677Meta-AnalysisFull text (PMC)

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2020

PMID: 31808946Meta-AnalysisFull text (PMC)

Cognitive functioning in patients with classical galactosemia: a systematic review.

[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2019

PMID: 31627760Meta-AnalysisFull text (PMC)

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2018

PMID: 29580649Meta-Analysis

Newborn screening for galactosaemia.

[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2017

PMID: 29274129Meta-AnalysisFull text (PMC)

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2017

PMID: 27858262Meta-AnalysisFull text (PMC)

Appropriateness of newborn screening for classic galactosaemia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2016

PMID: 27116003Meta-Analysis

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2014

PMID: 24857409Meta-Analysis

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

[object Object], [object Object], [object Object] et al. · J Clin Pharmacol · 2025

PMID: 39569553RCTFull text (PMC)

Search all PubMed articles for Galactosaemia

Research data from MEDLINE/PubMed

Related Conditions

Galactose epimerase deficiency(child)

Deficiency of uridyl transferase(child)

Galactosemia type 4(child)

Deficiency of galactokinase(child)

Disorder of galactose metabolism(parent)

Quick Facts

SNOMED CT: 190745006
UMLS CUI: C0016952
Fully Specified Name: Galactosemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.