Disease: Galactokinase deficiency
- <em>GALE</em> variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
- Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
- All aspects of galactosemia: a single center experience
- 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
- Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model
- 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<sup>®</sup>: 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
- Pseudohyperglycemia due to glucometer interference in galactosemia
- Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
- 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