Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.

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 t

SUBMITTER: Welsink-Karssies MM 

PROVIDER: S-EPMC7425409 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature