Detalhe da pesquisa
1.
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Clin Genet
; 97(5): 747-757, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32022900
2.
Inborn errors of metabolism and expanded newborn screening: review and update.
Crit Rev Clin Lab Sci
; 50(6): 142-62, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24295058
3.
A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.
J Pediatr Endocrinol Metab
; 25(1-2): 175-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570972
4.
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
J Hum Genet
; 56(8): 617-21, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697855
5.
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
6.
Identification of a novel vardenafil analogue in herbal product.
J Pharm Biomed Anal
; 46(4): 804-7, 2008 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-18248930
7.
A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Clin Chim Acta
; 376(1-2): 229-32, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16949066
8.
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Clin Neurol Neurosurg
; 199: 106258, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33031988
9.
Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy.
Clin Chim Acta
; 341(1-2): 101-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14967164
10.
Hyperekplexia: a Chinese adolescent with 2 novel mutations of the GLRA1 gene.
J Child Neurol
; 29(1): 111-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143726
11.
2,4-Dinitrophenol: a threat to Chinese body-conscious groups.
J Chin Med Assoc
; 77(8): 443-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028287
12.
Simultaneous detection of 22 toxic plant alkaloids (aconitum alkaloids, solanaceous tropane alkaloids, sophora alkaloids, strychnos alkaloids and colchicine) in human urine and herbal samples using liquid chromatography-tandem mass spectrometry.
J Chromatogr B Analyt Technol Biomed Life Sci
; 942-943: 63-9, 2013 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24216273
13.
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.
Diagn Mol Pathol
; 21(1): 56-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22306677
14.
Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.
Diagn Mol Pathol
; 21(3): 184-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847164
15.
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.
Clin Chim Acta
; 413(1-2): 126-30, 2012 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963339
16.
Aconite poisoning over 5 years: a case series in Hong Kong and lessons towards herbal safety.
Drug Saf
; 35(7): 575-87, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22631223
17.
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients.
J Clin Pathol
; 65(12): 1141-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22888119
18.
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.
Chin Med J (Engl)
; 124(16): 2556-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21933604
19.
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.
Fam Cancer
; 10(4): 695-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21732217
20.
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
Chin Med J (Engl)
; 124(2): 237-41, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21362373