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JIMD Reports|July 13, 2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patientsLydia Healy, Meabh O'Shea, Jennifer McNulty, et al.FEBS Letters|July 12, 2005
Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditionsIna Knerr, Steffen W Schubert, Christina Wich, et al.Journal of Clinical Medicine|March 10, 2022
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish ExperienceRitma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, et al.Molecular Genetics and Metabolism|April 16, 2008
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndromeChristian T Thiel, Birgit Knebel, Ina Knerr, et al.JIMD Reports|October 1, 2015
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical GalactosaemiaHenning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, et al.Pediatric Research|June 9, 2015
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot studyIna Knerr, Karen Patricia Coss, Jürgen Kratzsch, et al.Journal of Nutrition and Metabolism|December 23, 2017
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein IntakeOrla Purcell, Aoife Coughlan, Tim Grant, 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.Molecular Genetics and Metabolism|May 18, 2005
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screeningUta Nennstiel-Ratzel, Stephan Arenz, Esther M Maier, et al.Journal of Nutrition and Metabolism|July 24, 2018
Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood ResultsAnne Clark, Deirdre Deverell, Emma Corcoran, et al.Pageof 8