• <em>GALE</em> variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
• 50 Years Ago in TheJournalofPediatrics: Pregnancy in Women with Galactosemia
• A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
• A case report of classic galactosemia with a GALT gene variant and a literature review
• A founder noncoding GALT variant interfering with splicing causes galactosemia
• A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C &gt; T) variant of GALT
• A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
• A novel galactose electrochemical biosensor intended for point-of-care measurement of quantitative liver function using galactose single-point test
• A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups
• AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts
• Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia
• Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby
• 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
• An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia
• Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions
• Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment
• Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues
• beta-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency
• Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
• 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 form of galactosemia: 4 cases
• Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
• 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
• Clinical Significance of Serum Galactose-Deficient IgA1 Level in Children with IgA Nephropathy
• Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach
• 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
• Expansion of the clinical phenotype of GALE deficiency
• Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia
• Five years of screening for galactosaemia in South Africa: Pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country
• Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells
• Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia
• Galactokinase deficiency: a treatable cause of bilateral cataracts
• Galactokinase deficiency: lessons from the GalNet registry
• Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia
• Galactose epimerase deficiency: lessons from the GalNet registry
• Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia
• Galactose-Induced Skin Aging: The Role of Oxidative Stress
• Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
• Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome
• Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model
• Hand fine motor control in classic galactosemia
• Harnessing the Power of Purple Sweet Potato Color and <em>Myo</em>-Inositol to Treat Classic Galactosemia
• How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails
• Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia
• Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
• Inborn Errors of Metabolism: Becoming Ready for Rare
• Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia
• Laparoscopic ovarian tissue harvesting for cryopreservation from a child with galactosemia
• 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
• Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women
• Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III
• Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways
• Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population
• Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia
• Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
• Newborn screening for galactosaemia
• NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study
• Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia
• Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish
• 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
• OsUGE2 Regulates Plant Growth through Affecting ROS Homeostasis and Iron Level in Rice
• Pathophysiology and management of classic galactosemic primary ovarian insufficiency
• Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
• Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
• Pseudohyperglycemia due to glucometer interference in galactosemia
• Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living
• Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
• Receptor-mediated attenuation of insulin-like growth factor-1 activity by galactose-1-phosphate in neonate skin fibroblast cultures: Galactosemia pathogenesis
• 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
• Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach
• Sphingolipid depletion suppresses UPR activation and promotes galactose hypersensitivity in yeast models of classic galactosemia
• The 1-(13) C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
• The challenges of classical galactosemia: HRQoL in pediatric and adult patients
• The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan
• The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
• The genetic basis of classical galactosaemia in Polish patients
• The hypergonadotropic hypogonadism conundrum of classic galactosemia
• The Importance of Neonatal Screening for Galactosemia
• The Metabolic Chemical Reporter Ac₄6AzGal Could Incorporate Intracellular Protein Modification in the Form of UDP-6AzGlc Mediated by OGT and Enzymes in the Leloir Pathway
• The structural and molecular biology of type IV galactosemia
• Therapies for galactosemia: a patent landscape
• Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia
• Transient developmental delays in infants with Duarte-2 variant galactosemia
• Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
• Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature
• Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel <em>GALT</em> Gene Mutation Identified
• Two siblings with galactose mutarotase deficiency: Clinical differences
• 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
• Virus-Based Nanoreactors with GALT Activity for Classic Galactosemia Therapy
• β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency