Detalhe da pesquisa
1.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
2.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Hum Genomics
; 14(1): 28, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32907636
3.
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
4.
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Orphanet J Rare Dis
; 18(1): 43, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859275
5.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Mol Genet Metab
; 107(1-2): 136-44, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22864057
6.
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad.
Case Rep Genet
; 2022: 4153357, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35502402
7.
Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
Mol Genet Metab
; 102(2): 222-5, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21131218
8.
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Genes (Basel)
; 12(12)2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946879
9.
Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson disease.
Pathology
; 52(4): 439-446, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276787
10.
Membranous lupus nephritis in Chinese children--a case series and review of the literature.
Pediatr Nephrol
; 24(10): 1989-96, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19626343
11.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ Genom Med
; 4: 18, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396399
12.
Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity.
J Hum Genet
; 53(4): 375, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041379
13.
Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
J Mol Med (Berl)
; 85(4): 351-60, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17160405
14.
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry.
Clin Chim Acta
; 382(1-2): 25-30, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17442290
15.
BRCA1 and BRCA2 tumor suppressors protect against endogenous acetaldehyde toxicity.
EMBO Mol Med
; 9(10): 1398-1414, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28729482
16.
Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.
Brain Dev
; 28(6): 389-91, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376043
17.
Scaly rash.
J Paediatr Child Health
; 46(7-8): 441, 452, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20649858
18.
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Clin Biochem
; 36(2): 145-9, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12633764
19.
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Pathology
; 46(5): 375-82, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24992243
20.
Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children.
World J Pediatr
; 9(4): 361-4, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24146181