• <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 Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder
• 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
• 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
• 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
• Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
• 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 and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
• Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
• Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
• Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene
• 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
• Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre
• Expansion of the clinical phenotype of GALE deficiency
• Feasibility of a Proactive Parent-Implemented Communication Intervention Delivered via Telepractice for Children With Classic Galactosemia
• Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia
• Galactokinase deficiency: a treatable cause of bilateral cataracts
• 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
• Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
• Glucose-6-phosphate 1-Epimerase CrGlu6 Contributes to Development and Biocontrol Efficiency in <em>Clonostachys chloroleuca</em>
• Glucose-6-phosphate 1-Epimerase CrGlu6 Contributes to Development and Biocontrol Efficiency in Clonostachys chloroleuca
• GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation
• 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
• Hepatic glucuronyl C5-epimerase combats obesity by stabilising GDF15
• Hepatic sialic acid synthesis modulates glucose homeostasis in both liver and skeletal muscle
• Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
• Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients
• Inborn Errors of Metabolism: Becoming Ready for Rare
• Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts
• Inhibitors of dermatan sulfate epimerase 1 decreased accumulation of glycosaminoglycans in mucopolysaccharidosis type I fibroblasts
• 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
• Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features
• 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
• NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction
• 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
• Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice
• Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic 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
• 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
• Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
• Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
• Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy
• Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant
• 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
• 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
• Systemic metabolite profiling reveals sexual dimorphism of AIBP control of metabolism in mice
• 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 Effect of a Single High Dose of Vitamin D on Serum Levels of Its Metabolites in the Elderly
• 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
• 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 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
• Uridine diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deletion in mice leads to lethal intracerebral hemorrhage during embryonic development
• 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