Ellen Crushell
Children's Health Ireland At Temple Street
Dublin, L, Ireland
Dublin, L, Ireland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 75 publications
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Journal: Brain : a journal of neurology
Published: July 01, 2025
Social Deprivation among Children with Inherited Metabolic Disorders.
Journal: Irish medical journal
Published: June 17, 2025
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.
Journal: Molecular genetics and metabolism reports
Published: November 14, 2024
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: October 29, 2024
Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks.
Journal: Archives of disease in childhood
Published: October 08, 2024
Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.
Journal: JIMD reports
Published: October 07, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.
Journal: Journal of inherited metabolic disease
Published: March 28, 2024
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.
Journal: European journal of medical genetics
Published: March 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.
Journal: Molecular genetics and metabolism
Published: February 13, 2024
Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.
Journal: Molecular genetics and metabolism
Published: August 25, 2023
Last Updated: 09/26/2026