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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, AYW201412
 
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, AYW2012259
 
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, AYW2012103
 
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, AYW2011300
 
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, AYW2011296
 
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, AYW2011390
 
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, CW2010277
 
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, AYW2010199
 
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, YP2010487
 
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, YW2010306
 
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, CW2010325
 
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation
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
Chan, KY; Lam, CW; Lee, LP; Tong, SF; Yuen, YP2008111
 
Chemical pathology case conference - Common endocrine tests
Journal:
Hong Kong Practitioner
Publisher:
Hong Kong College of Family Physicians. The Journal's web site is located at http://www.hkcfp.org.hk/
Tai, MHL; Mak, CM; Yuen, YP; Lam, CW; Chiu, RWK; Chan, MHM; Chan, AYW; Shek, ACC; Mak, TWL; Poon, WT; Tam, S2007154
 
Chemical pathology case conference - Laboratory tests for diabetes mellitus
Journal:
Hong Kong Practitioner
Publisher:
Hong Kong College of Family Physicians. The Journal's web site is located at http://www.hkcfp.org.hk/
Yuen, YP; Mak, CM; Chan, AOK; Chan, MHM; Chiu, RWK; Lam, CW; Mak, TWL; Poon, WT; Shek, ACC; Tai, MHL; Tam, S; Chan, AYW2007177
 
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, YW2007122
 
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, YW2006173
 
Chemical pathology case conference - Renal function tests
Journal:
Hong Kong Practitioner
Publisher:
Hong Kong College of Family Physicians. The Journal's web site is located at http://www.hkcfp.org.hk/
Yuen, YP; Tam, S; Chan, AKC; Mak, TWL; Lam, CW; Shek, ACC; Chiu, RWK; Chan, MHM; Tai, MHL; Chan, AYW2006248
 
Chemical pathology case conference - Assessment of iron status in general practice
Journal:
Hong Kong Practitioner
Publisher:
Hong Kong College of Family Physicians. The Journal's web site is located at http://www.hkcfp.org.hk/
Mak, CM; Chiu, RWK; Lam, CW; Chan, AYW; Mak, TWL; Shek, A; Chan, MHM; Tai, MHL; Yuen, YP; Poon, WT; Tam, S2006169
 
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Yuen, YP; Cheng, WF; Chan, YW; Tong, SF2006144
 
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Cheng, AWF; Poon, WT; Yuen, YP; Huen, KF200696
 
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