Detalhe da pesquisa
1.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647852
2.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
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.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Intern Med J
; 52(1): 110-120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505344
5.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Hum Mutat
; 42(2): 135-141, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169484
6.
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genet Med
; 22(7): 1254-1261, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313153
7.
Benefits of powered standing wheelchair devices for adolescents with Duchenne muscular dystrophy in the first year of use.
J Paediatr Child Health
; 56(9): 1419-1425, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619315
8.
Erythropoietic protoporphyria: A rare cause of painful hands and feet.
J Paediatr Child Health
; 55(2): 236-238, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288822
9.
3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
JIMD Rep
; 63(6): 568-574, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341175
10.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Heart Rhythm
; 19(10): 1673-1681, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568137
11.
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Genes (Basel)
; 12(4)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924034
12.
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
JIMD Rep
; 54(1): 9-15, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685344
13.
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Pediatr Neurol
; 112: 94-100, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32446642
14.
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.
Eur J Clin Nutr
; 73(6): 961-965, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108280
15.
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy.
Neuromuscul Disord
; 29(3): 221-230, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30826157
16.
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
J Clin Med
; 8(11)2019 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31752325
17.
Cytomegalovirus-associated ileal stricture in a preterm neonate.
J Paediatr Child Health
; 44(1-2): 80-2, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18086043
18.
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
J Pediatr Genet
; 5(3): 174-80, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617160
19.
Down syndrome: clinical profile from India.
Arch Med Res
; 35(1): 31-5, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15036797
20.
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Pediatr Neurol
; 49(5): 374-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24139536