Results 1 to 20 of 39
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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
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 screeningSiu, WK; Mak, CM; Siu, SLY; Siu, TS; Pang, CY; Lam, CW; Kwong, NS; Chan, AYW2012115
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 boyHung, CN; Poon, DWT; Lee, CY; Law, CY; Chan, AYW201244
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patientsMak, CM; Siu, WK; Law, CY; Wong, CK; Lee, HK; Yeung, S; Sham, CO; Tse, K; Lee, HHC; Chen, SPL; Ching, CK; Au, CK; Poon, WT; Lam, CW; Kwong, NS; Chan, AYW201298
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutationMak, CM; Lee, CY; Lam, CW; Siu, WK; Hung, VCN; Chan, AYW201261
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
Smoking reduction intervention for smokers not willing to quit smoking: a randomised controlled trialLam, TH; Chan, SSC; Abdullah, ASM; Wong, VT; Chan, AYW; Hedley, AJ2012115
Parental attitudes on expanded newborn screening in Hong KongMak, CM; Lam, CW; Law, CY; Siu, CWK; Kwong, LL; Chan, KL; Chan, WT; Chow, KM; Lee, KW; Chan, WP; Chan, AYW201251
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
Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemiaChen, SPL; Poon, WT; Mak, CM; Lam, CW; Kwong, YL; Chan, AYW; Tam, S2011405
Molecular basis of von Hippel-Lindau syndrome in Chinese patientsSiu, WK; Ma, RCW; Lam, CW; Mak, CM; Yuen, YP; Lo, FMI; Chan, KW; Lam, SF; Ling, SC; Tong, SF; So, WY; Chow, CC; Tang, MHY; Tam, WH; Chan, AYW2011303
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
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patientsMak, CM; Chan, KY; Yau, EKC; Chen, SPL; Siu, WK; Law, CY; Lam, CW; Chan, AYW2011124
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumorsSiu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW2011136
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
Chemical pathology case conference - Serum tumour markersPoon, WT; Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Shek, CC; Tai, MHL; Tam, S; Chan, AYW2010130
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
Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese familyChan, KY; Ching, CK; Mak, CM; Lam, CW; Chan, AYW2009243
Chemical pathology case conference - Common endocrine testsTai, MHL; Mak, CM; Yuen, YP; Lam, CW; Chiu, RWK; Chan, MHM; Chan, AYW; Shek, ACC; Mak, TWL; Poon, WT; Tam, S2007106
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