Results 1 to 12 of 12
Page 1 of 1
TypeTitleAuthor(s)YearViews
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, AYW2012173
 
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, AYW2012190
 
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, AYW2012214
 
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, AYW2011319
 
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, AYW2011429
 
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, AYW2011215
 
Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessment
Journal:
Hong Kong Journal of Nephrology
Publisher:
Lippincott Williams & Wilkins Asia. The Journal's web site is located at http://www.hkjn.org/
Siu, WK; Mak, CM; Lee, HCH; Tam, S; Lee, J; Chan, TM; Fung, KSS; Tong, KLM; Chan, YWA2011468
 
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, AYW2011342
 
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, AYW2011265
 
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, AYW2011214
 
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese
Journal:
Molecular Genetics and Metabolism
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Mak, CM; Lam, CW; Siu, TS; Chan, KY; Siu, WK; Yeung, WL; Hui, J; Wong, VCN; Low, LCK; Ko, CH; Fung, CW; Chen, SP; Yuen, YP; Lee, HC; Yau, E; Chan, B; Tong, SF; Tam, S; Chan, YW2010342
 
Maternally inherited leigh syndrome: An unusual cause of infantile apnea
Journal:
Sleep and Breathing
Publisher:
Springer Verlag. The Journal's web site is located at http://www.springer.com/medicine/internal/journal/11325
Chau, CSK; Kwok, KL; Ng, DK; Lam, CW; Tong, SF; Chan, YW; Siu, WK; Yuen, YP2010988
 
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