Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study.
Niess E et al.
Journal of Inherited Metabolic Disease, 2025
Clinical and genetic features of Classic Galactosemia in the south of Brazil.
Simão Medeiros L et al.
Molecular Genetics and Metabolism, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Primary ovarian insufficiency in Classic Galactosemia: a systematic review.
Candela E et al.
Journal of Endocrinological Investigation, 2025
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Pereira D et al.
Jimd Reports, 2025
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.
Alaee M et al.
Clinical Case Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC et al.
Bmc Pediatrics, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.
Almenabawy N et al.
Molecular Genetics and Metabolism Reports, 2024
Classical Hereditary galactosemia: findings in patients and animal models.
Teixeira LF et al.
Metabolic Brain Disease, 2024
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G et al.
International Journal of Molecular Sciences, 2023
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.
Kalay I et al.
Annals of Human Genetics, 2023
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.
Lotz-Havla AS et al.
Journal of Clinical Medicine, 2023
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S et al.
Journal of Inherited Metabolic Disease, 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia.
Maroulis V et al.
Frontiers in Genetics, 2023
The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I et al.
Nutrients, 2022
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
Çelik M et al.
Journal of Tropical Pediatrics, 2022
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.
Randall JA et al.
Orphanet Journal of Rare Diseases, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Two consecutive pregnancies in a patient with premature ovarian insufficiency in the course of classic galactosemia and a review of the literature.
Kruszewska J et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2022
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
Treacy EP et al.
Jimd Reports, 2021
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Lucas-Del-Pozo S et al.
Movement Disorders Clinical Practice, 2021
The genetic basis of classical galactosaemia in Polish patients.
Jezela-Stanek A et al.
Orphanet Journal of Rare Diseases, 2021
Galactosemia: Towards Pharmacological Chaperones.
Banford S et al.
Journal of Personalized Medicine, 2021
Current and Future Treatments for Classic Galactosemia.
Delnoy B et al.
Journal of Personalized Medicine, 2021
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.
Crespo C et al.
Molecular Genetics and Metabolism Reports, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Welsink-Karssies MM et al.
Journal of Inherited Metabolic Disease, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM et al.
Molecular Genetics and Metabolism, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM et al.
Brain Communications, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R et al.
Annals of Human Genetics, 2019
Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2019
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Teke Kisa P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME et al.
Orphanet Journal of Rare Diseases, 2019
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
Grama A et al.
Medicina (kaunas, Lithuania), 2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Demirbas D et al.
Molecular Genetics and Metabolism, 2019
Screening for galactosemia: is there a place for it?
Kotb MA et al.
International Journal of General Medicine, 2019
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
Yuzyuk T et al.
The Journal of Applied Laboratory Medicine, 2018
Hereditary galactosemia.
Demirbas D et al.
Metabolism: Clinical and Experimental, 2018
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Demirbas D et al.
Pediatric Clinics of North America, 2018