Detalhe da pesquisa
1.
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.
Mol Genet Metab Rep
; 38: 101023, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058766
2.
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Int J Neonatal Screen
; 10(1)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535127
3.
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.
Orphanet J Rare Dis
; 17(1): 334, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056400
4.
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
JIMD Rep
; 60(1): 15-22, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258137
5.
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Epilepsia Open
; 6(4): 685-693, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379890
6.
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
Clin Chim Acta
; 521: 40-44, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161777
7.
Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong.
Brain Dev
; 40(6): 473-479, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599011
8.
Radboud Centre for Mitochondrial Medicine Pediatric MRI score.
Mitochondrion
; 32: 36-41, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27865797