Search details
1.
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.
J Inherit Metab Dis
; 44(3): 639-655, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33300147
2.
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.
J Pediatr
; 205: 77-82, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30529133
3.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31177572
4.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30740731
5.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Am J Med Genet A
; 176(5): 1115-1127, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29575569
6.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis
; 40(1): 49-74, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27778219
7.
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
Am J Med Genet A
; 158A(9): 2254-7, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22848014
8.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
J Inherit Metab Dis
; 34(1): 49-55, 2011 Feb.
Article
in English
| MEDLINE | ID: mdl-20821054
9.
Integrin α(IIb)ß3 exists in an activated state in subjects with elevated plasma homocysteine levels.
Platelets
; 22(1): 65-73, 2011.
Article
in English
| MEDLINE | ID: mdl-21133649
10.
Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.
Horm Res Paediatr
; 94(1-2): 36-43, 2021.
Article
in English
| MEDLINE | ID: mdl-34044405
11.
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
Eur J Pediatr
; 169(8): 941-9, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20177701
12.
Can neonatal TSH screening reflect trends in population iodine intake?
Thyroid
; 18(8): 883-8, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18651804
13.
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.
Horm Res Paediatr
; 89(4): 265-270, 2018.
Article
in English
| MEDLINE | ID: mdl-29804122
14.
Incidence of Congenital Hypothyroidism Over 37 Years in Ireland.
Pediatrics
; 142(4)2018 10.
Article
in English
| MEDLINE | ID: mdl-30242075
15.
Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.
Brain Dev
; 39(6): 536-538, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28190537
16.
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
J Nutr Metab
; 2017: 8570469, 2017.
Article
in English
| MEDLINE | ID: mdl-29270317
17.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Hum Mutat
; 21(4): 387-93, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12655548
18.
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.
Eur J Hum Genet
; 10(9): 530-8, 2002 Sep.
Article
in English
| MEDLINE | ID: mdl-12173030
19.
Vitamin D status in Irish children and adolescents: value of fortification and supplementation.
Clin Pediatr (Phila)
; 53(14): 1345-51, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25006113
20.
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.
J Neurol
; 257(1): 146-8, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-19760480