Results 1 to 20 of 41
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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
 
Inborn errors of metabolism and expanded newborn screening: review and update
Journal:
Crit Rev Clin Lab Sci
Mak, CM; Lee, HHC; Chan, AYW; Lam, CW20132
 
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
 
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
Journal:
Diagnostic Molecular Pathology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Siu, WK; Mak, CM; Siu, SLY; Siu, TS; Pang, CY; Lam, CW; Kwong, NS; Chan, AYW2012166
 
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
Journal:
Journal of Pediatric Endocrinology & Metabolism
Publisher:
Freund Publishing House, Ltd. The Journal's web site is located at http://www.freundpublishing.com/Journal_Pediatric_Endocrinology_Metabolism/JPEMprev.htm
Hung, CN; Poon, DWT; Lee, CY; Law, CY; Chan, AYW201269
 
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
Journal:
Journal of Clinical Pathology
Publisher:
BMJ Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Mak, 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, AYW2012147
 
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation
Journal:
Diagnostic Molecular Pathology
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Mak, CM; Lee, CY; Lam, CW; Siu, WK; Hung, VCN; Chan, AYW2012113
 
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
 
Smoking reduction intervention for smokers not willing to quit smoking: a randomised controlled trial
Journal:
Hong Kong Medical Journal
Publisher:
Hong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org.hk
Lam, TH; Chan, SSC; Abdullah, ASM; Wong, VT; Chan, AYW; Hedley, AJ2012179
 
Parental attitudes on expanded newborn screening in Hong Kong
Journal:
Public Health
Publisher:
WB Saunders Co Ltd. The Journal's web site is located at http://www.elsevier.com/locate/puhe
Mak, CM; Lam, CW; Law, CY; Siu, CWK; Kwong, LL; Chan, KL; Chan, WT; Chow, KM; Lee, KW; Chan, WP; Chan, AYW2012106
 
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
 
Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia
Journal:
Pathology
Publisher:
Informa Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/00313025.asp
Chen, SPL; Poon, WT; Mak, CM; Lam, CW; Kwong, YL; Chan, AYW; Tam, S2011444
 
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Journal:
Chinese Medical Journal
Publisher:
Zhonghua Yixuehui. The Journal's web site is located at http://med.wanfangdata.com.cn/Paper/PeriodicalInfo.aspx?periodicalID=zhcmj
Siu, 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, AYW2011363
 
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
 
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients
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
Mak, CM; Chan, KY; Yau, EKC; Chen, SPL; Siu, WK; Law, CY; Lam, CW; Chan, AYW2011177
 
Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors
Journal:
Familial Cancer
Publisher:
Springer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=1389-9600
Siu, WK; Law, CY; Lam, CW; Mak, CM; Wong, GWK; Ho, AYY; Ho, KY; Loo, KT; Chiu, SC; Chow, LTC; Tong, SF; Chan, AYW2011184
 
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
 
Chemical pathology case conference - Serum tumour markers
Journal:
Hong Kong Practitioner
Publisher:
Hong Kong College of Family Physicians. The Journal's web site is located at http://www.hkcfp.org.hk/
Poon, WT; Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Shek, CC; Tai, MHL; Tam, S; Chan, AYW2010184
 
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, CW2010310
 
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