Maria E. Gozalbo-Rubio
Maastricht, LI, Netherlands
Last Updated: 09/26/2026
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Found 83 publications
Reproductive potential in classical galactosemia: A case series based perspective.
Journal: European journal of obstetrics & gynecology and reproductive biology: X
Published: March 01, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.
Journal: Molecular genetics and metabolism
Published: January 19, 2026
Galactose tolerance in adults with classical galactosaemia. Considering the gaps.
Journal: Molecular genetics and metabolism reports
Published: December 23, 2025
Heritability of Long-Term Complications in Classic Galactosemia.
Journal: Journal of inherited metabolic disease
Published: December 19, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.
Journal: Annals of the Child Neurology Society
Published: August 29, 2025
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls.
Journal: Molecular genetics and metabolism
Published: February 11, 2025
Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.
Journal: JIMD reports
Published: February 04, 2025
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Journal: Journal of inherited metabolic disease
Published: December 19, 2024
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Journal: International journal of neonatal screening
Published: October 14, 2024
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.
Journal: Journal of inherited metabolic disease
Published: October 02, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Journal: Frontiers in genetics
Published: December 14, 2023
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
Journal: Journal of inherited metabolic disease
Published: October 27, 2023
Last Updated: 09/26/2026