• <em>In vitro</em> galactose impairs energy metabolism in the brain of young rats: protective role of antioxidants
• A case report of classic galactosemia with a GALT gene variant and a literature review
• A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
• Altered neural oscillations in classical galactosaemia during sentence production
• Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study
• Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots
• Brain function in classic galactosemia, a galactosemia network (GalNet) members review
• Carriers of autosomal recessive conditions: are they really 'unaffected?'
• Classic galactosemia
• Classic Galactosemia: Clinical and Computational Characterization of a Novel <em>GALT</em> Missense Variant (p.A303D) and a Literature Review
• Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
• Classical Hereditary galactosemia: findings in patients and animal models
• Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta
• Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene
• Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic
• Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels
• Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity
• Diagnostic yield of workups ordered by pediatric ophthalmologists for bilateral pediatric cataracts at a tertiary pediatric hospital in the United States
• Effect of Protection Polymer Coatings on the Performance of an Amperometric Galactose Biosensor in Human Plasma
• Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
• Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation
• Fertility Preservation in Benign and Malignant Conditions
• Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia
• Galactokinase Deficiency
• Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia
• Galactose-1-Phosphate Uridyltransferase Deficiency
• Gas Chromatography with Flame-Ionization Detection-Based Analysis of Sugar Contents in Korean Agricultural Products for Patients with Galactosemia
• Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model
• Health and well-being of maturing adults with classic galactosemia
• Hepatic adenoma in a 7-year-old girl: a case report and literature review
• Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
• Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
• Inborn errors of metabolism and pregnancy
• Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
• Inherited metabolic disorders in Cyprus
• Investigation of the effect of vitamin K1 prophylaxis on newborn screenings tests in newborns
• Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia
• Long-term complications in classic galactosemia are not progressive
• Molecular characterization of novel and rare DNA variants in patients with galactosemia
• Natural history of three late-diagnosed classic Galactosemia patients
• Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients
• Newborn Screening
• Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype
• Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic
• Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia
• Ovarian histology in children with classic galactosemia and correlation with endocrine and metabolic markers
• Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience
• Pathologically relevant aldoses and environmental aldehydes cause cilium disassembly via formyl group-mediated mechanisms
• Pediatric Cataract
• Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
• PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
• Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals
• Pseudohyperglycemia due to glucometer interference in galactosemia
• Recent and anticipated novel drug approvals for 2024
• Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia
• Retrospective Case-Control Study of Communication and Motor Abilities in 143 Children With Suspected Childhood Apraxia of Speech: Effect of Concomitant Diagnosis
• Safety, Pharmacokinetics, and Pharmacodynamics of the New Aldose Reductase Inhibitor Govorestat (AT-007) After a Single and Multiple Doses in Participants in a Phase 1/2 Study
• Secondary Reporting of G6PD Deficiency on Newborn Screening
• Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report
• Simple and sensitive galactose monitoring based on capillary SERS sensor
• Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability
• Social cognition, emotion-regulation and social competence in classical galactosemia patients without intellectual disability
• Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
• The challenges of classical galactosemia: HRQoL in pediatric and adult patients
• Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
• Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time
• Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report
• Virtual Post-Intervention Speech and Language Assessment of Toddler and Preschool Participants in Babble Boot Camp
• Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia