Detalhe da pesquisa
1.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Am J Med Genet A
; 191(6): 1599-1606, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896486
2.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
3.
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Mol Genet Metab
; 135(1): 63-71, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991945
4.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926322
5.
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
J Paediatr Child Health
; 56(8): 1210-1218, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329550
6.
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Am J Hum Genet
; 96(2): 245-57, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25597510
7.
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.
J Inherit Metab Dis
; 46(4): 541-542, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114831
8.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
Am J Hum Genet
; 94(3): 453-61, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24530203
9.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Am J Hum Genet
; 94(5): 784-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24791903
10.
Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II.
Cogn Neuropsychol
; 34(6): 347-356, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29210605
11.
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
J Inherit Metab Dis
; 40(6): 853-860, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687938
12.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Hum Mutat
; 37(7): 653-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931382
13.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26938784
14.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
J Inherit Metab Dis
; 38(3): 459-66, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25511235
15.
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Brain
; 137(Pt 11): 2903-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125611
16.
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
J Paediatr Child Health
; 56(12): 1996-1997, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351248
17.
Histopathological findings in livers of patients with urea cycle disorders.
Mol Genet Metab
; 108(3): 161-5, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403242
18.
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
Mol Genet Metab
; 110(1-2): 170-5, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23791010
19.
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.
JIMD Rep
; 64(5): 337-345, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701323
20.
A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses.
Paediatr Anaesth
; 22(8): 737-44, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22381044