Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
2.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093991
3.
Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.
Eur J Pediatr
; 181(10): 3725-3732, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945291
4.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
5.
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
6.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab
; 131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004274
7.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177572
8.
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
9.
Ornithine transcarbamylase deficiency: A diagnostic odyssey.
J Inherit Metab Dis
; 45(4): 661-662, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734906
10.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858262
11.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27091925
12.
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Pediatr Res
; 78(3): 272-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26053138
13.
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.
J Inherit Metab Dis
; 38(6): 1085-92, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917789
14.
N-glycan abnormalities in children with galactosemia.
J Proteome Res
; 13(2): 385-94, 2014 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24359113
15.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Front Genet
; 15: 1355962, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425716
16.
Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.
Nutrients
; 15(2)2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36678278
17.
A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020).
Nutrients
; 15(15)2023 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37571317
18.
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.
JIMD Rep
; 64(2): 150-155, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873085
19.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
J Clin Invest
; 133(10)2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976648
20.
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
J Inherit Metab Dis
; 35(1): 29-40, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21290185