Hepatic and Extra-hepatic Outcomes of Classical Galactosemia in Infants: A Longitudinal Observational Study.

Factors influencing adherence to dietary management in patients with classical galactosemia: A systematic review.

Metabolic signatures of galactosemia in magnetic resonance.

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

Single-cell transcriptomics reveals mechanisms of Galt gene editing-induced liver injury involving HGF-VEGF-mediated intercellular signaling in mice.

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

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.

Galactose mutarotase deficiency as the galactosemia type IV.

An update on clinical practice for Duarte galactosemia.

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.

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.

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

How useful are the biochemical tests in guiding the diagnostic workup of infantile cholestasis?

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.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

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

Unveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs.

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

LysR-type transcriptional regulator CARR represses the expression of bla CAR-2 and reduces P. diazotrophicus resistance to cefalothin, cefuroxime and cefotaxime.

WSe2 nanosheets with peroxidase-mimetic activity and carbon dots based ratiometric fluorescent strategy for D-galactose sensing.

Current research on plant-based milk alternatives and impact on health.

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.

Unilateral Oil Droplet Cataract in a Child: Importance of Early Detection and Intervention.

Prediction of Congenital Portosystemic Shunt in Neonatal Hypergalactosemia Using Gal-1-P/Gal Ratio, Bile Acid, and Ammonia.

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

Evaluation of pre-analytical and analytical variables affecting galactose-1-phosphate uridyltransferase assay performance in the diagnosis of classical galactosemia.

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review.

Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients.

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.

Deep Brain Stimulation in Classical Galactosemia: A Case-Report.

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.

Rethinking Newborn Screening: A Case of GALM Deficiency.

Single-cell transcriptomics reveals the mechanisms of lung injury induced by galt gene editing in mouse.

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

International Survey on Phenylketonuria Newborn Screening.

Implementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.

Epalrestat Alleviates Reactive Oxygen Species and Endoplasmic Reticulum Stress by Maintaining Glycosylation in IMS32 Schwann Cells Under Exposure to Galactosemic Conditions.

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.

Galactose Impairs Motor Performance and Cerebellar Signaling in Young Male Wistar Rats.

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.

Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway.

Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.

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

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.

Outcome of Expanded Newborn Screening Among 194 000 Neonates at Northeast México.

Copper Single-Atom Nanozyme Mimicking Galactose Oxidase with Superior Catalytic Activity and Selectivity.

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.

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report.

Inborn errors of metabolism and pregnancy.

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

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

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

Simple and sensitive galactose monitoring based on capillary SERS sensor.

Effect of Protection Polymer Coatings on the Performance of an Amperometric Galactose Biosensor in Human Plasma.

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

Altered neural oscillations in classical galactosaemia during sentence production.

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.

Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients.

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

Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels.

Recent and anticipated novel drug approvals for 2024.

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

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.

Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

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.

Molecular characterization of novel and rare DNA variants in patients with galactosemia.

Pathologically relevant aldoses and environmental aldehydes cause cilium disassembly via formyl group-mediated mechanisms.

Pseudohyperglycemia due to glucometer interference in galactosemia.

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.

Long-term complications in classic galactosemia are not progressive.

Investigation of the effect of vitamin K1 prophylaxis on newborn screenings tests in newborns.

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

Carriers of autosomal recessive conditions: are they really 'unaffected?'.

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.

Diagnostic yield of workups ordered by pediatric ophthalmologists for bilateral pediatric cataracts at a tertiary pediatric hospital in the United States.

Classical Hereditary galactosemia: findings in patients and animal models.

Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.

Hepatic adenoma in a 7-year-old girl: a case report and literature review.

Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity.

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

[Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene].

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

The challenges of classical galactosemia: HRQoL in pediatric and adult patients.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

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

Evaluation of ovarian reserve in young females with non-iatrogenic ovarian insufficiency to establish criteria for ovarian tissue cryopreservation.

Secondary Reporting of G6PD Deficiency on Newborn Screening.

Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia.

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.

Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Retrospective Case-Control Study of Communication and Motor Abilities in 143 Children With Suspected Childhood Apraxia of Speech: Effect of Concomitant Diagnosis.

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

Gas Chromatography with Flame-Ionization Detection-Based Analysis of Sugar Contents in Korean Agricultural Products for Patients with Galactosemia.

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.

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.

Novel solid inks based on beeswax, graphite and graphene applied to the fabrication of paper-based sensor for galactose determination.

Virus-like nanoparticles as enzyme carriers for Enzyme Replacement Therapy (ERT).

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

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.

Inherited Fanconi syndrome.

Tenofovir as a cause of acquired fanconi's syndrome.

The Importance of Neonatal Screening for Galactosemia.

Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach.

Co-Occurring Atypical Galactosemia and Wilson Disease.

Demonstrating the utility of sugar-phosphate phosphatases in coupled enzyme assays: galactose-1-phosphate uridylyltransferase as proof-of-concept.

Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

The hypergonadotropic hypogonadism conundrum of classic galactosemia.

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

Umbilical Cord-Derived Mesenchymal Stem Cells for the Treatment of Infertility Due to Premature Ovarian Failure.

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.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Determination of the lactose and galactose content of common foods: Relevance to galactosemia.

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

Oxidation of independent and combined ingested galactose and glucose during exercise.

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

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

One step cascade detection of galactose based on a galactose oxidase-composited peroxidase nanozyme.

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

Galactose epimerase deficiency: lessons from the GalNet registry.

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

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

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.

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

Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children.

Inborn Errors of Metabolism: Becoming Ready for Rare.

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.

A novel galactose electrochemical biosensor intended for point-of-care measurement of quantitative liver function using galactose single-point test.

Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

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.

Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in Pakistan.

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

Bayesian Interpretation of Essential Tremor Plus.

3.19 Inborn Errors of Metabolism.

Pathophysiology and management of classic galactosemic primary ovarian insufficiency.

Newborn Screening in Japan-2021.

Acute and early developmental outcomes of children with Duarte galactosemia.

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.

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.

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

Adolescent Fertility Preservation: Where Do We Stand Now.

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.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.

Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.

Structure-Based Optimization of Small Molecule Human Galactokinase Inhibitors.

Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

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

Candidate reference measurement procedure based on HPAEC-PAD for the development of certified reference materials for monosaccharides in serum.

Acute liver failure in newborns.

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

Decellularized pericardium tissues at increasing glucose, galactose and ribose concentrations and at different time points studied using scanning X-ray microscopy.

Expansion of the clinical phenotype of GALE deficiency.

Oxidative Stress in Intoxıcation Type Inborn Errors of Metabolism using Thiol-Disulfide Ratio.

50 Years Ago in TheJournalofPediatrics: Pregnancy in Women with Galactosemia.

The genetic basis of classical galactosaemia in Polish patients.

[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.

Newborn screening in Latin America: A brief overview of the state of the art.

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.

Galactosemia: Towards Pharmacological Chaperones.

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

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.

Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated?