Detalhe da pesquisa
1.
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Mol Genet Metab
; 142(3): 108508, 2024 May 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38820906
2.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37197783
3.
Mitochondrial disease in New Zealand: a nationwide prevalence study.
Intern Med J
; 54(3): 388-397, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37732891
4.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab
; 140(3): 107688, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37647829
5.
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.
J Inherit Metab Dis
; 2023 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38069502
6.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34989426
7.
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
J Inherit Metab Dis
; 44(4): 903-915, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33634872
8.
Plasma ammonia concentrations in extremely low birthweight infants in the first week after birth: secondary analysis from the ProVIDe randomized clinical trial.
Pediatr Res
; 88(2): 250-256, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31896121
9.
The decision to discontinue screening for carnitine uptake disorder in New Zealand.
J Inherit Metab Dis
; 42(1): 86-92, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30740730
10.
Fatal hyperammonemia associated with disseminated Serratia marcescens infection in a pediatric liver transplant recipient.
Pediatr Transplant
; 22(4): e13180, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29624817
11.
Two cases of infantile beriberi causing cardiorespiratory arrest in New Zealand.
J Paediatr Child Health
; 59(3): 565-566, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36688264
12.
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
J Inherit Metab Dis
; 40(1): 139-149, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27718144
13.
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
J Inherit Metab Dis
; 39(3): 409-414, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26743058
14.
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
J Inherit Metab Dis
; 39(2): 305-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26497564
15.
Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
J Neurol Sci
; 460: 122987, 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38579412
16.
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.
JIMD Rep
; 64(2): 180-186, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36873086
17.
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
JIMD Rep
; 64(3): 223-232, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37151360
18.
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
J Inherit Metab Dis
; 35(3): 459-67, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22086604
19.
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
J Inherit Metab Dis
; 35(6): 1119-28, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22481384
20.
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
JIMD Rep
; 63(4): 322-329, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35822099