Ching Wan Lam

Summary

Affiliation: The Chinese University of Hong Kong
Country: China

Publications

  1. ncbi Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Chin Med J (Engl) 116:1110-2. 2003
  2. ncbi Ketoconazole induced torsades de pointes without concomitant use of QT interval-prolonging drug
    Ngai Shing Mok
    Cardiology Team, Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China
    J Cardiovasc Electrophysiol 16:1375-7. 2005
  3. ncbi DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Mol Genet Metab 75:91-5. 2002
  4. ncbi Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chem 52:517-20. 2006
  5. ncbi Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Biochem 39:187-90. 2006
  6. ncbi Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Mol Genet Metab 72:254-9. 2001
  7. ncbi DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 358:55-9. 2005
  8. ncbi DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    J Hum Genet 52:98-101. 2007
  9. ncbi Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Am J Kidney Dis 38:1307-10. 2001
  10. ncbi Molecular genetic analysis of a Chinese patient with Fabry disease
    C W Lam
    Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Chin Med J (Engl) 113:186-8. 2000

Detail Information

Publications124 found, 100 shown here

  1. ncbi Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Chin Med J (Engl) 116:1110-2. 2003
  2. ncbi Ketoconazole induced torsades de pointes without concomitant use of QT interval-prolonging drug
    Ngai Shing Mok
    Cardiology Team, Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, China
    J Cardiovasc Electrophysiol 16:1375-7. 2005
    ..This calls for attention when ketoconazole is administered to patients with risk factors for acquired long QT syndrome...
  3. ncbi DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Mol Genet Metab 75:91-5. 2002
    ..The availability of the genomic sequences of human genes from the completed draft human genome sequence will simplify the development of molecular genetic diagnoses of human diseases from peripheral blood DNA...
  4. ncbi Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chem 52:517-20. 2006
    ..We investigated the mechanisms leading to allele dropout-the nonamplification of 1 of the alleles-in PCR-based diagnosis of Wilson disease (WD)...
  5. ncbi Genome-wide detection of allelic imbalance in renal cell carcinoma using high-density single-nucleotide polymorphism microarrays
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Biochem 39:187-90. 2006
    ..In this pilot study, we performed a comprehensive genome-wide scan to identify LOH sites of RCCs in three Chinese patients using high-density single-nucleotide polymorphism microarrays (HuSNP arrays)...
  6. ncbi Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Mol Genet Metab 72:254-9. 2001
    ....
  7. ncbi DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 358:55-9. 2005
    ..Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis...
  8. ncbi DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    J Hum Genet 52:98-101. 2007
    ..This approach can be used to standardize molecular investigations of genetic diseases due to consanguinity to a whole-genome scan and subsequent sequencing of the mapped disease gene...
  9. ncbi Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Am J Kidney Dis 38:1307-10. 2001
    ..DNA-based diagnosis will facilitate carrier detection, prenatal diagnosis, genetic counseling, and selection of living related donors...
  10. ncbi Molecular genetic analysis of a Chinese patient with Fabry disease
    C W Lam
    Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Chin Med J (Engl) 113:186-8. 2000
  11. ncbi Diagnosis of Wilson's disease: a comprehensive review
    Chloe M Mak
    Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong SAR, China
    Crit Rev Clin Lab Sci 45:263-90. 2008
    ..Ceruloplasmin oxidase activity and serum free-copper concentration should be monitored in patients on long-term de-coppering therapy to prevent iatrogenic copper deficiency...
  12. ncbi Novel donor splice site mutation of ABCG5 gene in sitosterolemia
    Ching Wan Lam
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Mol Genet Metab 75:178-80. 2002
    ..Up until now, the missense mutation has only been found in Japanese patients with sitosterolemia. We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia...
  13. ncbi Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, China
    Neurology 60:715-7. 2003
    ..These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII...
  14. ncbi A universal algorithm for de novo decrypting of heterozygous indel sequences: a tool for personalized medicine
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 389:7-13. 2008
    ..However, the current algorithms for decrypting heterozygous indel cannot be applied to unprecedented sequenced genomes and cannot be performed without reference sequences or reference sequence tracings for sequenced genomes...
  15. ncbi DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Mol Genet Metab 83:271-5. 2004
    ..The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation...
  16. ncbi Novel mutations in the PATCHED gene in basal cell nevus syndrome
    Ching Wan Lam
    Department of Medicine, Harvard Medical School, Brigham and Women s Hospital, Boston, MA 02115, USA
    Mol Genet Metab 76:57-61. 2002
    ..All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese...
  17. ncbi A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
    Ching Wan Lam
    Department of Chemical Pathology, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, China
    Chin Med J (Engl) 117:1850-2. 2004
  18. ncbi Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Prenat Diagn 20:765-8. 2000
    ..We show here that DNA mutation analysis can be used in the prenatal diagnosis of GSD1b and that DHPLC promises to be a robust technique for this and other prenatal molecular diagnoses...
  19. ncbi Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 360:167-72. 2005
    ....
  20. ncbi Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 364:256-9. 2006
    ..Chylomicronemia syndrome can be caused by 2 autosomal recessive disorders - lipoprotein lipase (LPL) deficiency and apolipoprotein C-II (apo C-II) deficiency...
  21. ncbi DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    J Invest Dermatol 124:87-91. 2005
    ..We found that the second patient is a compound heterozygote of 1209delG and Q554X in this gene. These are the first XPC-causing mutations identified in Chinese patients...
  22. ncbi A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    J Hepatol 44:240-2. 2006
    ..We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2...
  23. doi Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants
    Chloe Miu Mak
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
    J Hum Genet 56:617-21. 2011
    ..This may lead to discovery of the therapeutic golden window by aggressive antipyretics and L-carnitine administration in avoiding the high mortality and morbidity of IAE...
  24. ncbi Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
    Angel On-Kei Chan
    Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China
    Clin Chim Acta 351:155-9. 2005
    ..Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene...
  25. ncbi Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes
    Tao Yang
    Department of Chemical Pathology, Chinese University of Hong Kong, China
    Chin Med J (Engl) 115:753-8. 2002
    ..To investigate the role of a potential diabetes-related mitochondrial region, which includes two previously reported mutations, 3243A-->G and 3316G-->A, in Chinese patients with adult-onset type 2 diabetes...
  26. ncbi Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia
    Lisa Y S Chan
    Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China
    Hum Mutat 20:232-3. 2002
    ..The heterogeneity in phenotypic effects of these mutations is a likely consequence of their variable effects on proteoglycan binding, conformation and interactions with other secondary genetic or environmental factors...
  27. ncbi Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes
    Tao Yang
    Department of Chemical Pathology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Hum Mutat 21:453. 2003
    ....
  28. ncbi Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b
    Yuet Ping Yuen
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Mol Genet Metab 77:249-51. 2002
    ..The DNA-based diagnosis of GSD 1b will enable us to make an accurate determination of carrier status and to perform prenatal diagnosis of this disease...
  29. doi Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study
    Han Chih Hencher Lee
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Clin Chim Acta 413:126-30. 2012
    ..It was postulated that the condition might have been under-diagnosed among Chinese populations and a non-invasive screening tool should be developed in areas with high prevalence...
  30. ncbi Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family
    Ching Yin Lee
    Department of Paediatrics, Caritas Medical Centre, Hong Kong, China
    J Pediatr Endocrinol Metab 16:1197-201. 2003
    ..e. R246Q. To our knowledge, this is the first reported Chinese family diagnosed with steroid 5alpha-reductase 2 deficiency with identified molecular defects...
  31. doi Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
    Han Chih Hencher Lee
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Diagn Mol Pathol 19:184-6. 2010
    ..In the era of personalized medicine with the power of modern genetics, molecular diagnosis should be obtained for heterogeneous diseases with different genetic defects but sharing similar clinical and/or biochemical phenotypes...
  32. doi 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
    Wai Kwan Siu
    Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China
    Diagn Mol Pathol 21:184-7. 2012
    ..Therefore, we strongly urge the implementation of newborn screening using tandem mass spectrometry for VLCAD deficiency and other highly treatable inborn errors of metabolism in Hong Kong...
  33. ncbi Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China
    Chloe Miu Mak
    Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Chin Med J (Engl) 124:2556-8. 2011
    ..We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China...
  34. ncbi Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong
    Han Chih Hencher Lee
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
    Chin Med J (Engl) 124:983-9. 2011
    ..The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area...
  35. doi Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
    Wai Lan Yeung
    Department of Paediatrics, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China
    J Child Neurol 26:179-87. 2011
    ..Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms...
  36. doi Maternally inherited Leigh syndrome: an unusual cause of infantile apnea
    Christy Shuk-kuen Chau
    Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Sleep Breath 14:161-5. 2010
    ..Leigh Syndrome is an uncommon cause of infantile apnea...
  37. ncbi Stiff child syndrome with mutation of DYT1 gene
    Virginia C N Wong
    Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Neurology 65:1465-6. 2005
    ..Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation...
  38. ncbi Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese
    Chloe M Mak
    Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong SAR, China
    Amyloid 14:293-7. 2007
    ..We conclude that ATTR remains largely underdiagnosed in the Chinese population. A high clinical suspicion is crucial for a timely diagnosis and can thus lead to a significant decrease in morbidity and mortality...
  39. doi Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis
    Ching Wan Lam
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Clin Chim Acta 412:208-12. 2011
    ..The presence of fluorescent red cells (fluorocytes) in AIP is probably under-recognized since AIP is a hepatic porphyria and not associated with photosensitivity...
  40. doi Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects
    Chloe M Mak
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
    Clin Chem 54:1356-62. 2008
    ..In this study, we evaluated various decision thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals...
  41. doi Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
    Kin Chong Lau
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    Clin Chim Acta 392:8-10. 2008
    ..We hypothesized that residue Leu339 may be functionally critical...
  42. ncbi Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity
    Chloe Miu Mak
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China
    J Hum Genet 53:55-63. 2008
    ..The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years...
  43. ncbi Molecular basis of von Hippel-Lindau syndrome in Chinese patients
    Wai Kwan Siu
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Chin Med J (Engl) 124:237-41. 2011
    ..The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families...
  44. doi Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure
    Chloe M Mak
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China
    Clin Chim Acta 398:39-42. 2008
    ..We developed a one-step, 3-h, reproducible, and accurate real-time amplification refractory mutation system which can simultaneously detect 28 ATP7B mutations...
  45. ncbi Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
    Yuet Ping Yuen
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    J Nephrol 17:436-40. 2004
    ..A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene...
  46. ncbi [Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes]
    Tao Yang
    Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 25:134-41. 2003
    ..To investigate the role of lipoprotein lipase (LPL) gene on Chinese patients with hypertriglyceridemic type 2 diabetes...
  47. ncbi Analysis of polymerase chain reaction products by denaturing high-performance liquid chromatography
    Ching Wan Lam
    Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR
    Methods Mol Biol 336:73-82. 2006
    ..The technology detects single-base changes as efficiently as short deletions and insertions. The chance that a mutation cannot be detected is 0.5%...
  48. ncbi Association of human papillomavirus type 58 variant with the risk of cervical cancer
    Paul K S Chan
    Department of Microbiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China
    J Natl Cancer Inst 94:1249-53. 2002
    ..038, two-sided Mann-Whitney U test). Thus, HPV58 variants carrying E7 T20I/G63S substitutions may be associated with an increased risk for cervical cancer...
  49. doi Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome
    Chloe Miu Mak
    Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
    Int J Neurosci 121:224-7. 2011
    ..The exact diagnosis offers a different management approach and genetic counseling. NBIA is likely under- or misdiagnosed in Hong Kong Chinese...
  50. ncbi A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
    Hum Mutat 16:94. 2000
  51. ncbi Genetic variation of glycoproteins B and H of human herpesvirus 7 in Hong Kong
    Paul K S Chan
    Department of Microbiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China
    J Med Virol 71:429-33. 2003
    ..4%) Hong Kong isolates were of the gH allele group B, and all others were of the gH allele group C. These data indicate the possibility of using gB or gH alleles as markers for studying world-wide population movements and genetics...
  52. ncbi Chromosomal distribution of the human cardiovascular transcriptome
    J David Barrans
    The Cardiovascular Genome Unit, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, 75 Francis St, Thorn 1334, Boston, MA 02115, USA
    Genomics 81:519-24. 2003
    ..This report provides insight into a possible role for complex tissue-specific gene regulation in the human genome...
  53. doi Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
    Chloe Miu Mak
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
    J Clin Pathol 65:1141-5. 2012
    ..This study aims to provide a formal electronic consultation service and to apply tandem mass spectrometry-based dried blood spot metabolic screening (DBSM) as a rapid first-line test for patients suspected of IEM...
  54. doi A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysis
    Kin Chong Lau
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Clin Chim Acta 406:31-5. 2009
    ..To enhance the clinical application of microarray analysis on personalized medicine, we describe a modified PCR purification protocol without batch-size limitation for whole-genome scan using ultra-high density SNP microarray...
  55. pmc Proinflammatory cytokines (IL-17, IL-6, IL-18 and IL-12) and Th cytokines (IFN-gamma, IL-4, IL-10 and IL-13) in patients with allergic asthma
    C K Wong
    Departments of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong
    Clin Exp Immunol 125:177-83. 2001
    ..001). We propose that allergic asthma is characterized by an elevation of both proinflammatory and Th2 cytokines. The significantly lower ratio of Th1/Th2 cells confirms a predominance of Th2 cells response in allergic asthma...
  56. doi Hypoadiponectinaemia enhances waist circumference as a predictor of glucose intolerance and clustering of risk factors in Chinese men
    G T C Ko
    Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Flat D, 4th Floor, Block B, Staff Quarter, The Prince of Wales Hospital, Shatin, Hong Kong, China
    Diabetes Metab 36:192-7. 2010
    ..This study aimed to confirm the hypothesis that adiponectin levels can enhance the discriminative value of waist circumference (WC) in predicting impaired glycaemic status and clustering of risk factors...
  57. doi Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong
    Chloe Miu Mak
    Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Clin Biochem 46:155-9. 2013
    ..Diagnosis can be elusive when clinical presentation is non-specific and biochemical abnormalities are masked by secondary changes. This is the first Hong Kong Chinese report...
  58. doi Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment
    Kin Chong Lau
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Clin Chim Acta 412:952-7. 2011
    ..We aimed to confirm the associations in Chinese population and develop a non-invasive screening method for the risk loci...
  59. doi Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors
    Wai Kwan Siu
    Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Fam Cancer 10:695-9. 2011
    ..Genetic analysis is reliable to confirm the underlying hereditary basis of hyperparathyroidism. By identification of mutations, the patient and the family members could benefit from regular surveillance for early detection of tumors...
  60. doi Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation
    Chloe Miu Mak
    Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital, Hong Kong SAR, China
    Diagn Mol Pathol 21:56-9. 2012
    ..Successful cases have been reported with most experience on the KCNJ11-mutated permanent form. Here we report a successful experience in an ABCC8-mutated infant with permanent NDM...
  61. ncbi Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease
    Wai Lan Yeung
    Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong Special Administrative Region, China
    Brain Dev 28:389-91. 2006
    ..To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children...
  62. ncbi Microarrays for personalized genomic medicine
    Ching Wan Lam
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Adv Clin Chem 52:1-18. 2010
    ..In addition to personalized genomic medicine, studying the genetic heterogeneity in diverse ancestral population helps to implementing effective clinical management...
  63. doi Diagnosis and spectrum of melamine-related renal disease: plausible mechanism of stone formation in humans
    Ching Wan Lam
    Department of Pathology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China
    Clin Chim Acta 402:150-5. 2009
    ..An epidemic of urinary stones affecting children after consumption of melamine tainted milk is unfolding. We defined clinicopathological features of the disease for diagnosis, monitoring, and treatment of this group of patients...
  64. pmc Human metapneumovirus detection in patients with severe acute respiratory syndrome
    Paul K S Chan
    Faculty of Medicine of the Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China
    Emerg Infect Dis 9:1058-63. 2003
    ..These widely available HEp-2 cells should be included in conjunction with a molecular method for cell culture followup to detect HMPV, particularly in patients with SARS...
  65. ncbi Human papillomavirus type 16 intratypic variant infection and risk for cervical neoplasia in southern China
    Paul K S Chan
    Department of Microbiology, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region, People s Republic of China
    J Infect Dis 186:696-700. 2002
    ..The epidemiology and risk implication of HPV-16 variant infection in Hong Kong differ markedly from other parts of the world...
  66. ncbi Changes in atherogenic lipids and lipoproteins during natural and hyperstimulated cycles in healthy women
    C J Haines
    Prince of Wales Hospital, Chinese University of Hong Kong, Department of Obstetrics and Gynaecology, Shatin, New Territories, Hong Kong
    Fertil Steril 68:231-5. 1997
    ..To compare changes in the concentrations of Lp(a) lipoprotein and other atherogenic lipids and lipoproteins in natural and hyperstimulated ovarian cycles...
  67. ncbi Liver iron estimation in beta-thalassaemia: comparison of MRI biochemical assay and histological grading
    Y L Chan
    Department of Diagnostic Radiology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shaitin, NT, Hong Kong
    Clin Radiol 56:911-6. 2001
    ....
  68. ncbi Alterations of RAS signalling in Chinese multiple myeloma patients: absent BRAF and rare RAS mutations, but frequent inactivation of RASSF1A by transcriptional silencing or expression of a non-functional variant transcript
    Margaret H L Ng
    Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR
    Br J Haematol 123:637-45. 2003
    ..In our current studies of Chinese MM patients, these alterations involved frequent RASSF1A inactivation (60%) as a result of transcriptional silencing or expression of a non-functional variant transcript...
  69. ncbi Changes of leptin and metabolic hormones in preterm infants: a longitudinal study in early postnatal life
    P C Ng
    Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, NT Hong Kong
    Clin Endocrinol (Oxf) 54:673-80. 2001
    ..We also postulate that a rapid increase in body weight and body mass index in the first few weeks of life may be associated with a corresponding increase in serum leptin if the 'adipoinsular axis' is active at this stage...
  70. ncbi A comparison of cytokine responses in respiratory syncytial virus and influenza A infections in infants
    R Y Sung
    Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin
    Eur J Pediatr 160:117-22. 2001
    ..02). The concentration of tumour necrosis factor-alpha (TNF-alpha) in NPA was significantly lower in infants with RSV infection (P < 0.01)...
  71. pmc Refractory hypotension in preterm infants with adrenocortical insufficiency
    P C Ng
    Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong
    Arch Dis Child Fetal Neonatal Ed 84:F122-4. 2001
    ..Corticosteroid treatment should be considered and could be life saving in severely hypotensive preterm infants who do not respond to conventional treatment with volume expanders and inotropes...
  72. pmc Hepatic iron storage in very low birthweight infants after multiple blood transfusions
    P C Ng
    Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong
    Arch Dis Child Fetal Neonatal Ed 84:F101-5. 2001
    ..To investigate the effect of multiple blood transfusions on hepatic iron storage in preterm, very low birthweight (VLBW) infants...
  73. ncbi Molecular prognostication of nasopharyngeal carcinoma by quantitative analysis of circulating Epstein-Barr virus DNA
    Y M Lo
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories
    Cancer Res 60:6878-81. 2000
    ..6 (95% confidence interval, 1.1-2.1 for each 10-fold increase in serum EBV DNA concentration; P = 0.007)]. The quantitation of circulating EBV DNA may thus allow improved prognostication of NPC...
  74. ncbi Analysis of mid-trimester corticotrophin-releasing hormone and alpha-fetoprotein concentrations for predicting pre-eclampsia
    T N Leung
    Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong
    Hum Reprod 15:1813-8. 2000
    ..Although the combination of both tests improved the detection rate compared to the use of CRH alone, the small increase in the likelihood ratio from 1.9 to 2.6 did not suggest that the combination would be of great clinical value...
  75. doi Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation
    T W Leung
    Division of Neurology, Department of Medicine and Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong
    Neurology 75:2185-9. 2010
    ..The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation...
  76. ncbi Plasma total antioxidant capacity in an adult Hong Kong Chinese population
    J Woo
    Department of Medicine, Chinese University of Hong Kong, Hong Kong
    Clin Biochem 30:553-7. 1997
    ....
  77. ncbi Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Sha Tin
    Clin Genet 53:184-90. 1998
    ..To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G-->T mutation is indeed prevalent in Hong Kong...
  78. ncbi A crossover study of triptorelin and leuprorelin acetate
    T K Cheung
    Deprtment of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, China
    Fertil Steril 74:299-305. 2000
    ..To compare the potency, side effects, and duration of action of triptorelin and leuprorelin acetate after i.m. injections...
  79. ncbi Dialysate hyaluronan concentration predicts survival but not peritoneal sclerosis in continuous ambulatory peritoneal dialysis
    C C Szeto
    Departments of Medicine and Therapeutics and Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong, China
    Am J Kidney Dis 36:609-14. 2000
    ..We conclude that PDE hyaluronan level during stable phase of CAPD does not predict the risk of postperitonitis adhesion. However, it is a strong independent predictor of survival in CAPD patients...
  80. pmc Leptin and metabolic hormones in infants of diabetic mothers
    P C Ng
    Department of Paediatrics, Level 6, Clinical Science Building, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, NT, Hong Kong
    Arch Dis Child Fetal Neonatal Ed 83:F193-7. 2000
    ....
  81. ncbi A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children
    T F Leung
    Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, China
    Clin Exp Allergy 31:1515-21. 2001
    ..Previous studies showed that polymorphisms in the IL-13 gene were associated with serum total IgE or allergic asthma. The relationship of this marker with sensitization to individual aeroallergens has not been evaluated...
  82. ncbi Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure
    Juey Jen Hwang
    Cardiovascular Genome Unit, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston 02115, USA
    Physiol Genomics 10:31-44. 2002
    ..Microarray technology provides us with a genomic approach to explore the genetic markers and molecular mechanisms leading to heart failure...
  83. ncbi The prevalence of narcolepsy among Chinese in Hong Kong
    Yun Kwok Wing
    Department of Psychiatry, Chinese University of Hong Kong, Shatin, China
    Ann Neurol 51:578-84. 2002
    ....
  84. ncbi RASSF1A is a target tumor suppressor from 3p21.3 in nasopharyngeal carcinoma
    Lillian Shuk Nga Chow
    Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China
    Int J Cancer 109:839-47. 2004
    ..In vivo nude mice assay demonstrated the dramatic reduction of tumorigenic potential in the RASSF1A-transfected clones. Our results provide strong evidence to support RASSF1A as a target tumor suppressor gene on 3p21.3 in NPC...
  85. ncbi A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency
    Ronald C W Ma
    Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong
    Hong Kong Med J 13:151-4. 2007
    ..Genetic analysis of the succinate dehydrogenase genes can provide a specific diagnosis and allow for genetic screening of at-risk individuals...
  86. ncbi Whole blood mercury concentrations in sub-fertile men in Hong Kong
    T Y Leung
    Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
    Aust N Z J Obstet Gynaecol 41:75-7. 2001
    ..From a public heath perspective, these findings confirm that mercury toxicity is a potentially serious problem affecting the local community...
  87. ncbi Childhood goitre and urinary iodine excretion in Hong Kong
    G W Wong
    Faculty of Medicine, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories
    Eur J Pediatr 157:8-12. 1998
    ..The median urinary iodine concentration for the random urine samples was 190 microg/l (1.50 micromol/l) or 158 microg/g creatinine. The median 24-h urinary excretion of iodine was 189 microg (1.49 micromol) per day...
  88. ncbi Growth factors in continuous ambulatory peritoneal dialysis effluent. Their relation with peritoneal transport of small solutes
    K N Lai
    Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, China
    Am J Nephrol 19:416-22. 1999
    ..Such action of TGF-beta1 could reduce the risk of peritoneal sclerosis and hence, maintains a satisfactory peritoneal permeability to small solutes...
  89. ncbi Effect of CHO loading patterns on running performance
    Y Chen
    Department of Sports Science and Physical Education, The Chinese University of Hong Kong, Hong Kong
    Int J Sports Med 29:598-606. 2008
    ..6 +/- 1.3 vs. 55.3 +/- 6.9 min). It appears that the amount, rather than the nature, of the CHO consumed during the 3-day isoenergetic CHO loading may be the most overriding factor on subsequent metabolism and endurance run performance...
  90. ncbi Fat intake in Hong Kong Chinese children
    S S Leung
    Departments of Paediatrics and Chemical Pathology, Chinese University of Hong Kong, China
    Am J Clin Nutr 72:1373S-1378S. 2000
    ..Nutritional deficiency was uncommon. Chinese children in Hong Kong had a dietary fat intake that was both quantitatively and qualitatively different from the traditional Chinese diet...
  91. ncbi Determinants of chronic obstructive pulmonary disease in Chinese patients in Hong Kong
    M Chan-Yeung
    Respiratory Division, Department of Medicine, The University of Hong Kong, Hong Kong, China
    Int J Tuberc Lung Dis 11:502-7. 2007
    ..The prevalence of chronic obstructive pulmonary disease (COPD) is rising in many parts of the world. This is a study of risk factors for COPD in Chinese patients in Hong Kong...
  92. pmc Characterization of a Tsukamurella pseudo-outbreak by phenotypic tests, 16S rRNA sequencing, pulsed-field gel electrophoresis, and metabolic footprinting
    Kelvin K W To
    State Key Laboratory for Emerging Infectious Diseases, The University of Hong Kong, Hong Kong, Hong Kong
    J Clin Microbiol 51:334-8. 2013
    ..This report highlights that early recognition of pseudo-outbreaks is important in preventing unnecessary and incorrect treatment of patients...
  93. doi Automated imaging of circulating fluorocytes for the diagnosis of erythropoietic protoporphyria: a pilot study for population screening
    Kin Chong Lau
    Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, China
    J Med Screen 15:199-203. 2008
    ..To improve the traditional fresh blood film method to a high-throughput analysis of the presence of circulating fluorescent red cells (fluorocytes) in erythropoietic protoporphyria (EPP) using an automated imaging system...
  94. doi Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene
    Kar Ki Chik
    Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China
    J Paediatr Child Health 44:517-9. 2008
    ..Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia...
  95. ncbi Solid tumors subsequent to arsenic trioxide treatment for acute promyelocytic leukemia
    Wing Yan Au
    Department of Medicine, Professorial Block, Queen Mary Hospital, Pokfulam Road, Hong Kong
    Leuk Res 31:105-8. 2007
    ..Compared against matched background population, there was an increased risk of second cancer (p=0.012, standard incidence ratio=6.5; 95% confidence interval=1.4-19.0)...
  96. ncbi Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy
    Mo Lung Chen
    Department of Pathology, Princess Margaret Hospital, Lai King Hill Road, Hong Kong, China
    Clin Chim Acta 341:101-7. 2004
    ..We investigated the use of adenosine deaminase (ADA) activity in tuberculous pleuritis diagnosis...
  97. doi Organochlorine isotopic pattern-enhanced detection and quantification of triclosan and its metabolites in human serum by ultra-high-performance liquid chromatography/quadrupole time-of-flight/mass spectrometry
    Jian Lin Wu
    Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong SAR, China
    Rapid Commun Mass Spectrom 26:123-32. 2012
    ..15 to 10 ng/mL. To the best of our knowledge, this is the first report on the identification of TCS and metabolites in human serum, and it also provides the most sensitive LC/MS approach for the quantification of TCS...
  98. ncbi Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred
    C M Mak
    Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong, China
    Acta Neurol Scand 107:419-22. 2003
    ..Both restriction analysis and direct sequencing revealed the same mutation in one of the two asymptomatic siblings. This mutation was first reported in a FAP1 family of German descent...
  99. ncbi The psychological well-being of the Chinese elderly living in old urban areas of Hong Kong: a social perspective
    C W Lam
    Department of Social Work and Social Administration, The University of Hong Kong, Hong Kong, China
    Aging Ment Health 9:162-6. 2005
    ..There is a need for more research in the future to study their needs and problems so that social work practitioners can be well informed and culturally competent to help this disadvantaged group...
  100. ncbi Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene
    Wai Lan Yeung
    Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China
    Chin Med J (Engl) 118:873-6. 2005
  101. doi Analysis of melamine cyanurate in urine using matrix-assisted laser desorption/ionization mass spectrometry
    Ho Wai Tang
    Department of Chemistry and Open Laboratory of Chemical Biology of the Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Hong Kong SAR, China
    Anal Chem 81:3676-82. 2009
    ....