Results 1 to 20 of 28
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Laser-induced dissociation of singly cationic peptides at 193nm with a modified triple quadrupole linear ion trap mass spectrometerLai, CK; Ng, DCM; Hao, Q; Pang, RHF; Mui, CKL; Cheung, ASC; Chu, IK201259
Mechanistic examinations on isomerizations and dissociations of phosphorylated glycylserinyltryptophan (GpSW) radical cationsQuan, Q; Kong, RPW; Song, T; Hao, Q; Lai, CK; Siu, CK; Chu, IK201252
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot studyLee, HCH; Lai, CK; Yau, KCE; Siu, TS; Mak, CM; Yuen, YP; Chan, KY; Tam, S; Lam, CW; Chan, AYW2012166
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 yearsLee, HHC; Lam, CW; Yuen, YP; Lai, CK; Chan, KY; Chan, AYW201248
Formation and Dissociation of Phosphorylated Peptide Radical CationsKong, PW; Quan, Q; Lai, CK; Hao, Q; Siu, CK; Chu, IK2012113
Roles of radicals and charges in the neutral H3PO4 loss of molecular phosphorylated peptide radical cationsQuan, Q; Kong, RPW; Siu, SO; Lai, CK; Ng, DCM; Hao, Q; Siu, CK; Chu, IK201172
Modification of triple quadrupole linear ion trap mass spectrometer for laser-induced dissociation on cationic peptidesNg, DCM; Lai, CK; Pang, RHF; Cheung, ASC; Chu, IK201163
Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong KongLee, 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, AYW2011203
Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variantsMak, 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, AYW2011203
Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, ChinaMak, CM; Ko, CH; Lam, CW; Lau, WL; Siu, WK; Chen, SPL; Law, CY; Lai, CK; Yu, CM; Chan, AYW2011129
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type IILee, HCH; Lai, CK; Siu, TS; Yuen, YP; Chan, KY; Chan, AYW; Tam, S; Mak, CM; Lam, CW2010196
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemiaLee, HHC; Lee, RSY; Lai, CK; Yuen, YP; Siu, TS; Chan, AYW; Lam, CW2010241
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delayYuen, YP; Lam, CW; Chan, KY; Lai, CK; Tong, SF; Chan, YW200768
Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuriaYuen, YP; Lam, CW; Lai, CK; Tong, SF; Li, PS; Tam, S; Kwan, EYW; Chan, SY; Tsang, WK; Chan, KY; Mak, WL; Cheng, CW; Chan, YW2006106
Detection of Herba Aristolochia Mollissemae in a patient with unexplained nephropathyLo, SH; Wong, KS; Arlt, VM; Phillips, DH; Lai, CK; Poon, WT; Chan, CK; Mo, KL; Chan, KW; Chan, A200596
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VILam, CW; Chan, AOK; Lai, CK; Chan, WH; Chan, YW; Shek, CC; Tong, SF200470
Aggravation of non-steroidal anti-inflammatory drug-induced hepatitis and acute renal failure by slimming drug containing anthraquinonesLi, FK; Lai, CK; Poon, WT; Wo Chan, AY; Chan, KW; Tse, KC; Chan, TK; Lai, KN2004122
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1Yuen, YP; Lai, CK; Tong, GMW; Wong, PN; Wong, FKM; Mak, SK; Lo, KY; Wong, AKM; Tong, SF; Chan, YW; Lam, CW200483
Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase geneLam, CW; Yuen, YP; Chan, KY; Tong, SF; Lai, CK; Chow, TC; Lee, KC; Chan, YW; Martiniuk, F200385
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluriaAu, KM; Lai, CK; Yuen, YP; Shek, CC; Lam, CW; Chan, AYW2003117
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