Philip D. Mayne
Dublin, L, Ireland
Last Updated: 09/26/2026
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Found 22 publications
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.
Journal: Molecular genetics and metabolism reports
Published: November 14, 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
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland.
Journal: Journal of inherited metabolic disease
Published: August 04, 2020
Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.
Journal: Hormone research in paediatrics
Published: May 27, 2020
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
Journal: Irish medical journal
Published: April 21, 2020
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Journal: Journal of inherited metabolic disease
Published: February 14, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Journal: Journal of inherited metabolic disease
Published: February 12, 2019
Incidence of Congenital Hypothyroidism Over 37 Years in Ireland.
Journal: Pediatrics
Published: June 29, 2018
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.
Journal: The Journal of pediatrics
Published: June 05, 2018
Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold.
Journal: Hormone research in paediatrics
Published: January 18, 2018
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Journal: American journal of medical genetics. Part A
Published: December 23, 2017
Dilated cardiomyopathy secondary to vitamin D deficiency and hypocalcaemia in the Irish paediatric population: A case report.
Journal: Irish medical journal
Published: June 29, 2017
Last Updated: 09/26/2026