Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication.

Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study.

Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia.

Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia.

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.

Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.

Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial.

Translating the Power of Precision Medicine Into the World of Communication Disorders.

Simultaneous, dual-target, bilateral deep brain stimulation for treatment of galactosemia-induced dystonia and tremor in a pediatric patient.

A Pilot Study of Bone Marrow Transplantation in a GALT-Null Rat Model of Classic Galactosemia.

Clinical and genetic features of Classic Galactosemia in the south of Brazil.

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia.

Primary ovarian insufficiency in Classic Galactosemia: a systematic review.

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.

Social cognition, psychosocial development and well-being in galactosemia.

Motor Milestones: Sensory Motor Trends of Young Children with Classic Galactosemia.

Health and well-being of maturing adults with classic galactosemia.

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.

Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia.

Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia.

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.

A case report of classic galactosemia with a GALT gene variant and a literature review.

Ovarian histology in children with classic galactosemia and correlation with endocrine and metabolic markers.

Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.

Natural history of three late-diagnosed classic Galactosemia patients.

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia.

Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability.

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

Long-term complications in classic galactosemia are not progressive.

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.

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.

Classical Hereditary galactosemia: findings in patients and animal models.

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.

In vitro galactose impairs energy metabolism in the brain of young rats: protective role of antioxidants.

Virtual Post-Intervention Speech and Language Assessment of Toddler and Preschool Participants in Babble Boot Camp.

Secondary Reporting of G6PD Deficiency on Newborn Screening.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.

Comparison of In Vitro and In Silico Assessments of Human Galactose-1-Phosphate Uridylyltransferase Coding Variants.

Co-Occurring Atypical Galactosemia and Wilson Disease.

The hypergonadotropic hypogonadism conundrum of classic galactosemia.

Rare disease therapeutics: The future of medical genetics in a changing landscape.

Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.

All aspects of galactosemia: a single center experience.

Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.

Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia.

Laparoscopic ovarian tissue harvesting for cryopreservation from a child with galactosemia.

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Harnessing the Power of Purple Sweet Potato Color and Myo-Inositol to Treat Classic Galactosemia.

Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia.

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.

Transient Cytopenias as a Rare Presentation of Classic Galactosemia.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

Sphingolipid depletion suppresses UPR activation and promotes galactose hypersensitivity in yeast models of classic galactosemia.

Pathophysiology and management of classic galactosemic primary ovarian insufficiency.

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.

AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.

Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature.

Toward Preventing Speech and Language Disorders of Known Genetic Origin: First Post-Intervention Results of Babble Boot Camp in Children With Classic Galactosemia.

Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach.

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.

Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.

Transient developmental delays in infants with Duarte-2 variant galactosemia.

Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.

The genetic basis of classical galactosaemia in Polish patients.

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.

Hand fine motor control in classic galactosemia.

Virus-Based Nanoreactors with GALT Activity for Classic Galactosemia Therapy.

Current and Future Treatments for Classic 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.

Puberty and fertility in classic galactosemia.

A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia.

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.

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.

Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells.

The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response.

A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.

Redox Proteomes in Human Physiology and Disease Mechanisms.

Cognitive functioning in patients with classical galactosemia: a systematic review.

Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.

Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.

Dehydroepiandrosterone supplementation attenuates ovarian ageing in a galactose-induced primary ovarian insufficiency rat model.

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation method.

Salubrinal enhances eIF2α phosphorylation and improves fertility in a mouse model of Classic Galactosemia.

Screening for galactosemia: is there a place for it?

Tongue Strength in Children With and Without Speech Sound Disorders.

The natural history of classic galactosemia: lessons from the GalNet registry.

Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.

Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.

Discovery of novel inhibitors of human galactokinase by virtual screening.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.

Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt.

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.

Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

Impaired fertility and motor function in a zebrafish model for classic galactosemia.

Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model.

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.

A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.

Galactose and its Metabolites Deteriorate Metaphase II Mouse Oocyte Quality and Subsequent Embryo Development by Disrupting the Spindle Structure.

Sweet and sour: an update on classic galactosemia.

The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia.

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

Drosophila melanogaster Models of Galactosemia.

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study.

Gastrointestinal Health in Classic Galactosemia.

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.

Classic Galactosemia: Indian Scenario.

Teaching NeuroImages: Galactitol peak and fatal cerebral edema in classic galactosemia: Too much sugar in the brain.

Affected functional networks associated with sentence production in classic galactosemia.

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

Newborn screening for galactosemia: a 30-year single center experience.

Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.

Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.

Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

Structure activity relationships of human galactokinase inhibitors.