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TypeTitleAuthor(s)YearViews
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis
Journal:
Hong Kong Med J
Lee, HHC; Poon, KH; Lai, CK; Au, KM; Siu, TS; Lai, JP; Mak, CM; Yuen, YP; Lam, CW; Chan, AYW20143
 
Laser-induced dissociation of singly cationic peptides at 193nm with a modified triple quadrupole linear ion trap mass spectrometer
Proceedings/Conference:
Journal of The American Society for Mass Spectrometry
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/jasms
Lai, CK; Ng, DCM; Hao, Q; Pang, RHF; Mui, CKL; Cheung, ASC; Chu, IK201275
 
Mechanistic examinations on isomerizations and dissociations of phosphorylated glycylserinyltryptophan (GpSW) radical cations
Proceedings/Conference:
Journal of The American Society for Mass Spectrometry
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/jasms
Quan, Q; Kong, RPW; Song, T; Hao, Q; Lai, CK; Siu, CK; Chu, IK201275
 
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lee, HCH; Lai, CK; Yau, KCE; Siu, TS; Mak, CM; Yuen, YP; Chan, KY; Tam, S; Lam, CW; Chan, AYW2012229
 
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years
Journal:
Genetic Counseling
Publisher:
Editions Medecine et Hygiene. The Journal's web site is located at http://www.medhyg.ch/boutique/index.php/medecine-sante/genetic-counseling.html
Lee, HHC; Lam, CW; Yuen, YP; Lai, CK; Chan, KY; Chan, AYW201293
 
Formation and Dissociation of Phosphorylated Peptide Radical Cations
Journal:
J. Am. Soc. Mass Spectrom
Kong, PW; Quan, Q; Lai, CK; Hao, Q; Siu, CK; Chu, IK2012154
 
Roles of radicals and charges in the neutral H3PO4 loss of molecular phosphorylated peptide radical cations
Proceedings/Conference:
Journal of The American Society for Mass Spectrometry
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/jasms
Quan, Q; Kong, RPW; Siu, SO; Lai, CK; Ng, DCM; Hao, Q; Siu, CK; Chu, IK2011101
 
Modification of triple quadrupole linear ion trap mass spectrometer for laser-induced dissociation on cationic peptides
Proceedings/Conference:
Journal of The American Society for Mass Spectrometry
Publisher:
Elsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/jasms
Ng, DCM; Lai, CK; Pang, RHF; Cheung, ASC; Chu, IK201184
 
Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kong
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://www.cmj.org/
Lee, HCH; Mak, CM; Lam, CW; Yuen, YP; Chen, AOK; Shek, CC; Siu, TS; Lai, CK; Ching, CK; Siu, WK; Chen, SPL; Law, CY; Tai, MHL; Tam, S; Chan, AYW2011278
 
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants
Journal:
Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/jhg/index.html
Mak, CM; Lam, CW; Fong, NC; Siu, WK; Lee, HCH; Siu, TS; Lai, CK; Law, CY; Tong, SF; Poon, WT; Lam, DSY; Ng, HL; Yuen, YP; Tam, S; Que, TL; Kwong, NS; Chan, AYW2011277
 
Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://www.cmj.org/
Mak, CM; Ko, CH; Lam, CW; Lau, WL; Siu, WK; Chen, SPL; Law, CY; Lai, CK; Yu, CM; Chan, AYW2011197
 
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Journal:
Diagnostic Molecular Pathology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Lee, HCH; Lai, CK; Siu, TS; Yuen, YP; Chan, KY; Chan, AYW; Tam, S; Mak, CM; Lam, CW2010252
 
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia
Journal:
Hong Kong Medical Journal
Publisher:
Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Lee, HHC; Lee, RSY; Lai, CK; Yuen, YP; Siu, TS; Chan, AYW; Lam, CW2010311
 
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Yuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW2007112
 
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria
Journal:
Kidney International
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ki/index.html
Yuen, YP; Lam, CW; Lai, CK; Tong, SF; Li, PS; Tam, S; Kwan, EYW; Chan, SY; Tsang, WK; Chan, KY; Mak, WL; Cheng, CW; Chan, YW2006156
 
Detection of Herba Aristolochia Mollissemae in a patient with unexplained nephropathy
Journal:
American Journal of Kidney Diseases
Publisher:
WB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/ajkd
Lo, SH; Wong, KS; Arlt, VM; Phillips, DH; Lai, CK; Poon, WT; Chan, CK; Mo, KL; Chan, KW; Chan, A2005122
 
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://www.cmj.org/
Lam, CW; Chan, AOK; Lai, CK; Chan, WH; Chan, YW; Shek, CC; Tong, SF200497
 
Aggravation of non-steroidal anti-inflammatory drug-induced hepatitis and acute renal failure by slimming drug containing anthraquinones
Journal:
Nephrology Dialysis Transplantation
Publisher:
Oxford University Press. The Journal's web site is located at http://ndt.oxfordjournals.org/
Li, FK; Lai, CK; Poon, WT; Wo Chan, AY; Chan, KW; Tse, KC; Chan, TK; Lai, KN2004165
 
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
Journal:
Journal of Nephrology
Publisher:
Wichtig Editore srl. The Journal's web site is located at http://www.jnephrol.com/index.asp?a=current
Yuen, YP; Lai, CK; Tong, GMW; Wong, PN; Wong, FKM; Mak, SK; Lo, KY; Wong, AKM; Tong, SF; Chan, YW; Lam, CW2004133
 
Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene
Journal:
Neurology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Lam, CW; Yuen, YP; Chan, KY; Tong, SF; Lai, CK; Chow, TC; Lee, KC; Chan, YW; Martiniuk, F2003122
 
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