Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300147
2.
Catalogue of inherited disorders found among the Irish Traveller population.
J Med Genet
; 55(4): 233-239, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358271
3.
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
J Inherit Metab Dis
; 41(1): 81-90, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29027067
4.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
J Med Genet
; 53(11): 768-775, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412952
5.
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience.
J Clin Med
; 11(5)2022 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35268460
6.
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.
J Multidiscip Healthc
; 15: 553-566, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35387391
7.
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.
JIMD Rep
; 63(4): 379-387, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822093
8.
Integrin α(IIb)ß3 exists in an activated state in subjects with elevated plasma homocysteine levels.
Platelets
; 22(1): 65-73, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21133649
9.
The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.
JIMD Rep
; 61(1): 34-41, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485015
10.
Outcomes of siblings with classical galactosemia.
J Pediatr
; 154(5): 721-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19181333
11.
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Dev Med Child Neurol
; 51(5): 404-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19388150
12.
Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.
JIMD Rep
; 47(1): 41-46, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240166
13.
Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results.
J Nutr Metab
; 2018: 2178346, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30034865
14.
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.
J Nutr Metab
; 2017: 8570469, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29270317
15.
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Pediatr Neurol
; 66: 59-62, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843092
16.
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Clin Dysmorphol
; 25(4): 146-51, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27295358
17.
Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.
BMJ Case Rep
; 20152015 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25721834