ArticleBrain communications2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Article in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 46 citations in OpenAlex.
- Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.American journal of speech-language pathology · 2022Trial
- Galactose tolerance in adults with classical galactosaemia. Considering the gaps.Molecular genetics and metabolism reports · 2026Article
- Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.Frontiers in psychiatry · 2026Article
- Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.Journal of inherited metabolic disease · 2025Article
- Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.Journal of inherited metabolic disease · 2025Article
- Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.Clinical case reports · 2025Article
- Social cognition, psychosocial development and well-being in galactosemia.Orphanet journal of rare diseases · 2024Article
- Pathologically relevant aldoses and environmental aldehydes cause cilium disassembly via formyl group-mediated mechanisms.Journal of molecular cell biology · 2024Article
- Natural history of three late-diagnosed classic Galactosemia patients.Molecular genetics and metabolism reports · 2024Article
- Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.Molecular genetics and metabolism reports · 2024Article
- Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients.JIMD reports · 2024Article
- Brain function in classic galactosemia, a galactosemia network (GalNet) members review.Frontiers in genetics · 2024Review
- Review
- The challenges of classical galactosemia: HRQoL in pediatric and adult patients.Orphanet journal of rare diseases · 2023Article
- Ontologizing health systems data at scale: making translational discovery a reality.NPJ digital medicine · 2023Article
- Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.Journal of clinical medicine · 2023Article
- Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.Frontiers in molecular biosciences · 2023Article
- Molecular characterization of novel and rare DNA variants in patients with galactosemia.Frontiers in genetics · 2023Article
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- ClinicalNeuroradiology · 2022Review
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early diagnosis and dietary treatment do not prevent long-term complications, which mostly affect the central nervous system in classical galactosemia patients. The clinical outcome of patients is highly variable, and there is an urgent need for prognostic biomarkers. The aim of this study was first to increase knowledge on the natural history of classical galactosemia by studying a cohort of patients with varying geno- and phenotypes and second to study the association between clinical outcomes and two possible prognostic biomarkers. In addition, the association between abnormalities on brain MRI and clinical outcomes was investigated. Classical galactosemia patients visiting the galactosemia expertise outpatient clinic of the Amsterdam University Medical Centre were evaluated according to the International Classical Galactosemia guideline with the addition of an examination by a neurologist, serum immunoglobulin G
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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.