• <em>GALE</em> variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
• 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
• Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
• All aspects of galactosemia: a single center experience
• Altered neural oscillations in classical galactosaemia during sentence production
• An Approach for Evaluating Potential Screening Thresholds Using Biomarker Population Distribution and Analytical Imprecision
• Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment
• Caregivers' nutrition-related knowledge, perceptions, practices and barriers regarding the therapeutic diet for classical galactosaemia
• Classic galactosemia
• Classic Galactosemia: Clinical and Computational Characterization of a Novel <em>GALT</em> Missense Variant (p.A303D) and a Literature Review
• Classical Hereditary galactosemia: findings in patients and animal models
• Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene
• 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
• Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia
• Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report
• Galactokinase Deficiency
• Galactokinase Deficiency
• Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia
• Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model
• Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
• Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia
• 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
• 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
• Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
• Pseudohyperglycemia due to glucometer interference in galactosemia
• Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
• 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
• The challenges of classical galactosemia: HRQoL in pediatric and adult patients
• The hypergonadotropic hypogonadism conundrum of classic galactosemia
• The Importance of Neonatal Screening for Galactosemia
• 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