Detalhe da pesquisa
1.
Galactokinase deficiency: lessons from the GalNet registry.
Genet Med
; 23(1): 202-210, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32807972
2.
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
3.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Mol Genet Metab
; 129(3): 171-176, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954591
4.
Challenges in diagnosing and managing adult patients with urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1136-1146, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30932189
5.
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
6.
Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.
Int J Mol Sci
; 20(20)2019 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652573
7.
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
8.
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
9.
N-glycan abnormalities in children with galactosemia.
J Proteome Res
; 13(2): 385-94, 2014 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24359113
10.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Front Genet
; 15: 1355962, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425716
11.
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations.
Metabolites
; 13(4)2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37110176
12.
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Hum Reprod Update
; 29(2): 246-258, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512573
13.
Determination of the lactose and galactose content of common foods: Relevance to galactosemia.
Food Sci Nutr
; 10(11): 3789-3800, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348783
14.
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.
JIMD Rep
; 63(4): 265-270, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822088
15.
Impact of trimethylaminuria on daily psychosocial functioning.
JIMD Rep
; 57(1): 67-75, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473342
16.
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.
JIMD Rep
; 61(1): 76-88, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485021
17.
Galactosemia, a single gene disorder with epigenetic consequences.
Pediatr Res
; 67(3): 286-92, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19952866
18.
Glycogen storage disease type III in the Irish population.
J Inherit Metab Dis
; 33 Suppl 3: S215-8, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20490926
19.
The role of primary care in management of rare diseases in Ireland.
Ir J Med Sci
; 189(3): 771-776, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31933130
20.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Brain Commun
; 2(1): fcaa006, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954279