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International Journal of Molecular Sciences|October 27, 2019
Insights into the Pathophysiology of Infertility in Females with Classical GalactosaemiaZaza Abidin, Eileen P TreacyJournal of Inherited Metabolic Disease|April 2, 2019
Challenges in diagnosing and managing adult patients with urea cycle disordersKarolina M Stepien, Tarekegn Geberhiwot, Christian J Hendriksz, et al.Metabolites|April 28, 2023
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic ConsiderationsLoai A Shakerdi, Barbara Gillman, Emma Corcoran, et al.Pediatric Neurology|November 26, 2011
"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defectsMargaret M Moran, Nicholas M Allen, Eileen P Treacy, et al.Journal of Inherited Metabolic Disease|May 22, 2010
Glycogen storage disease type III in the Irish populationEllen Crushell, Eileen P Treacy, J Dawe, et al.Pediatric Neurology|October 23, 2008
Reversible multiorgan system involvement in a neonate with complex IV deficiencyEvonne Low, Ellen B Crushell, Sinead B Harty, et al.Molecular Genetics and Metabolism Reports|July 18, 2018
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencyKarolina M Stepien, Philomena McCarthy, Eileen P Treacy, et al.JIMD Reports|January 21, 2021
Impact of trimethylaminuria on daily psychosocial functioningDaniel Roddy, Philomena McCarthy, Darragh Nerney, et al.JIMD Reports|August 10, 2016
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A ReviewAshwini Maratha, Hugh-Owen Colhoun, Ina Knerr, et al.JIMD Reports|June 27, 2019
Long-term outcomes in a 25-year-old female affected with lipin-1 deficiencyKarolina M Stepien, Wolfgang M Schmidt, Reginald E Bittner, et al.Pageof 4