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Archives of Disease in Childhood|March 6, 2019
Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusalCaoimhe Howard, William L Macken, Ann Connolly, et al.Clinical Case Reports|June 27, 2025
Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case SeriesEimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, et al.Nutrients|September 14, 2024
Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic DisordersFiona Boyle, Gary Lynch, Clare M Reynolds, et al.JIMD Reports|March 6, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of <i>MTFMT</i>-related mitochondrial diseaseCaoimhe Howard, Arundhati Dev-Borman, John Stokes, et al.Molecular Genetics and Metabolism|January 6, 2026
Influence of a 12 week at-home resistance exercise program on <sup>13</sup>C-glucose metabolism in patients with metabolic myopathiesKendall Plant, Caoimhe Howard, Philippe Bourdon, et al.European Journal of Pediatrics|August 9, 2022
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centreEsme Dunne, Daniel O'Reilly, Claire A Murphy, et al.Acta Paediatrica (Oslo, Norway : 1992)|September 19, 2019
No effect of a musical intervention on stress response to venepuncture in a neonatal populationCaoimhe Howard, Anna S Powell, Elena Pavlidis, et al.Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.Pageof 1