Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers [PDF]
Brain Communications, 2020 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.
Annet Bosch +2 more
exaly +10 more sources
Deep Brain Stimulation in Classical Galactosemia: A Case‐Report [PDF]
Movement Disorders Clinical PracticeMovement Disorders Clinical Practice, Volume 12, Issue 11, Page 1984-1986, November 2025.
Chloe Laurencin, Stéphane Thobois
exaly +3 more sources
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients [PDF]
JIMD ReportsClassical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose‐restricted diet, patients develop long‐term complications including cognitive impairment.
Merel E. Hermans +3 more
doaj +2 more sources
A case report of classic galactosemia with a GALT gene variant and a literature review [PDF]
BMC PediatricsBackground Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency,
Yong-cai Wang +5 more
doaj +2 more sources
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights [PDF]
Molecular Genetics and Metabolism ReportsBackground: Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance.
Hui-An Chen +6 more
doaj +2 more sources
LysR-type transcriptional regulator CARR represses the expression of blaCAR-2 and reduces P. diazotrophicus resistance to cefalothin, cefuroxime and cefotaxime [PDF]
Frontiers in Cellular and Infection MicrobiologyBackgroundP. diazotrophicus was isolated from a newborn with D-galactosemia complicated sepsis. A homologous blaCAR-2 gene, encoding CAR-2, a predicted member of the CAR family subclass B3 metallo-β-lactamases (MBLs), was found in the genome of this ...
Jiansheng Lin +5 more
doaj +2 more sources
Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. [PDF]
Case Reports in NeurologyIntroduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia.
Ioannis Karafyllis +3 more
doaj +2 more sources
Experiences with galactosemia in Croatia [PDF]
Liječnički vjesnik, 2023 The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc +18 more
doaj +1 more source
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia [PDF]
JIMD Reports, 2017 Annet Bosch +2 more
exaly +2 more sources
Puberty and fertility in classic galactosemia [PDF]
Endocrine Connections, 2021 Classic galactosemia is a rare inborn error of galactose metabolism with a birth prevalence of about 1/30,000–60,000. Long-term complications occurring despite dietary treatment consist of premature ovarian insufficiency (POI) and neurodevelopmental impairments.
Isabelle Flechtner +9 more
openaire +3 more sources