C. Lam

发表

N. Mok, C. Lam, N. Fong, 2006 .

First Discovery of Two Polyketide Synthase Genes for Mitorubrinic Acid and Mitorubrinol Yellow Pigment Biosynthesis and Implications in Virulence of Penicillium marneffei

K. Yuen, S. Lau, C. Lam, 2012, PLoS neglected tropical diseases.

Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.

T. Siu, S. Tam, C. Lam, 2012, Clinica chimica acta; international journal of clinical chemistry.

OPathPaed service model for expanded newborn screening in Hong Kong SAR, China

C. Lam, Hencher Han-Chih Lee, C. Mak, 2013, British journal of biomedical science.

The biosynthetic pathway for a thousand-year-old natural food colorant and citrinin in Penicillium marneffei

P. Woo, K. Yuen, Kim-Chung Lee, 2014, Scientific Reports.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.

C. Lam, C. Lai, K. Au, 2014, Hong Kong medical journal = Xianggang yi xue za zhi.

Misidentification of Aspergillus nomius and Aspergillus tamarii as Aspergillus flavus: Characterization by Internal Transcribed Spacer, β-Tubulin, and Calmodulin Gene Sequencing, Metabolic Fingerprinting, and Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry

K. Yuen, Kim-Chung Lee, K. Fung, 2014, Journal of Clinical Microbiology.

Lipid mediators of inflammation as novel plasma biomarkers to identify patients with bacteremia.

Samson S. Y. Wong, P. Woo, K. To, 2015, The Journal of infection.

Metabolomic profiling of Burkholderia pseudomallei using UHPLC-ESI-Q-TOF-MS reveals specific biomarkers including 4-methyl-5-thiazoleethanol and unique thiamine degradation pathway

P. Woo, K. Yuen, Kim-Chung Lee, 2015, Cell & Bioscience.

Metabolomic Profiling of Plasma from Patients with Tuberculosis by Use of Untargeted Mass Spectrometry Reveals Novel Biomarkers for Diagnosis

K. To, I. Hung, K. Yuen, 2015, Journal of Clinical Microbiology.

The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study

C. Lam, C. Mak, A. Chan, 2017 .

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.

C. Lam, Jian-lin Wu, Ka-Fai Leung, 2012, Rapid communications in mass spectrometry : RCM.

A frequent activated smoothened mutation in sporadic basal cell carcinomas

F. McCormick, Jingwu Xie, H. Ng, 1999, Oncogene.

Age‐specific reference ranges of serum anti‐müllerian hormone in healthy women and its application in diagnosis of polycystic ovary syndrome: a population study

Rong Li, Ching Yin Grace Wong, W. Yeung, 2020, BJOG : an international journal of obstetrics and gynaecology.

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Y. Lau, S. Fan, Ching-lung Lai, 2008, Journal of Human Genetics.

Inborn errors of metabolism and expanded newborn screening: review and update

C. Lam, Hencher Han-Chih Lee, C. Mak, 2013, Critical reviews in clinical laboratory sciences.

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong.

C. Lam, Y. Chong, Hencher Han-Chih Lee, 2018, Hong Kong medical journal = Xianggang yi xue za zhi.

Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

C. Lam, Hencher Han-Chih Lee, C. Mak, 2014, Journal of medical screening.

Parental attitudes on expanded newborn screening in Hong Kong.

C. Lam, C. Mak, W. Siu, 2012, Public health.

Stiff child syndrome with mutation of DYT1 gene

V. Wong, C. Lam, C. Fung, 2005, Neurology.

Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

C. Lam, 2021, Journal of Laboratory Medicine.

Molecular prognostication of nasopharyngeal carcinoma by quantitative analysis of circulating Epstein-Barr virus DNA.

S. Leung, Y. Lo, P. Johnson, 2000, Cancer research.

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

J. Williams, C. Lam, Y. Chan, 1997, European Journal of Pediatrics.

De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

L. Wong, C. Lam, P. W. Tse, 2001, Journal of paediatrics and child health.

NMR-based metabolomic urinalysis: a rapid screening test for urinary tract infection.

K. To, K. Yuen, Kim-Chung Lee, 2014, Clinica chimica acta; international journal of clinical chemistry.

The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients

K. To, A. Tam, I. Hung, 2022, Frontiers in Endocrinology.

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies.

Xinqi Cheng, C. Lam, N. Fong, 2020, Clinica chimica acta; international journal of clinical chemistry.

Pleural effusion lipoproteins measured by NMR spectroscopy for diagnosis of exudative pleural effusions: a novel tool for pore-size estimation.

C. Lam, C. Law, 2014, Journal of proteome research.

NMR-based urinalysis for beta-ketothiolase deficiency.

C. Lam, Chi-kong Lai, Kin-Cheong Eric Yau, 2015, Clinica chimica acta; international journal of clinical chemistry.

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

C. Lam, Y. Yuen, W. Siu, 2010, Sleep and Breathing.

Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients

C. Lam, W. Poon, Hencher Han-Chih Lee, 2012, Journal of Clinical Pathology.

Genotype‐phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia

B. Tomlinson, C. Pang, L. Baum, 2002, Human mutation.

Analysis of polymerase chain reaction products by denaturing high-performance liquid chromatography.

C. Lam, 2006, Methods in molecular biology.

DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography.

C. Lam, Kwok-Yin Chan, Chi-kong Lai, 2002, Molecular genetics and metabolism.

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

C. Lam, S. Tong, P. Poon, 2001, American journal of medical genetics.

Novel splicing mutation of the PPOX gene (IVS10 + 1G-->A) detected by denaturing high-performance liquid chromatography.

C. Lam, C. Lai, Y. Yuen, 2001, Clinica chimica acta; international journal of clinical chemistry.

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

E. Lau, C. Lam, S. Tong, 2000, Prenatal diagnosis.

Mutation not universally linked with diabetes

C. Lam, 2002, Nature.

Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: evaluation of a microbial-mammalian co-metabolite as a diagnostic biomarker.

K. To, K. Sze, C. Lam, 2015, Clinica chimica acta; international journal of clinical chemistry.

A tricyclic pyrrolobenzodiazepine produced by Klebsiella oxytoca is associated with cytotoxicity in antibiotic-associated hemorrhagic colitis

W. Chan, K. Yuen, S. Leung, 2017, The Journal of Biological Chemistry.

A Rett syndrome MECP2 mutation that causes mental retardation in men

A. Federico, M. Dotti, C. Lam, 2002, Neurology.

Atypical presentation of dopa-responsive dystonia

C. Lam, S. Tong, C. Ko, 2001, Neurology.

Genetic diversity of Aspergillus species isolated from onychomycosis and Aspergillus hongkongensis sp. nov., with implications to antifungal susceptibility testing.

J. Chan, K. Yuen, Kim-Chung Lee, 2016, Diagnostic microbiology and infectious disease.

Characterization of a Tsukamurella Pseudo-Outbreak by Phenotypic Tests, 16S rRNA Sequencing, Pulsed-Field Gel Electrophoresis, and Metabolic Footprinting

K. To, K. Yuen, Kim-Chung Lee, 2012, Journal of Clinical Microbiology.

Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy.

C. Lam, K. Au, A. Chan, 2004, Clinica chimica acta; international journal of clinical chemistry.

Quantitative analysis of pleural fluid cell-free DNA as a tool for the classification of pleural effusions.

K. Chow, C. Lam, A. Chan, 2003, Clinical chemistry.

Protein zone electrophoresis of pleural effusion: the diagnostic separation of transudates and exudates.

C. Lam, M. Chen, 1999, Clinical chemistry.

Mutational analysis for Wilson's disease

M. Yuen, D. But, Ching-lung Lai, 2009, The Lancet.

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

T. Siu, C. Lam, C. Mak, 2012, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency.

K. Choy, J. Honour, W. Miller, 2001, Molecular genetics and metabolism.

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

M. S. Yan, C. Lam, S. Tong, 2006, Journal of hepatology.

Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2‐associated syndrome and a brief review of literature

C. Lam, N. Fong, Hui-Yin Lo, 2022, American journal of medical genetics. Part A.

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.

C. Lam, Y. Yuen, C. Law, 2016, Hong Kong medical journal = Xianggang yi xue za zhi.

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

T. Siu, S. Tam, C. Lam, 2011, Journal of Human Genetics.

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia.

C. Lam, C. Law, Ka-chung Wong, 2021, Pathology.

Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity

K. To, A. Tam, I. Hung, 2021, Clinical endocrinology.

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

C. Lam, C. Law, W. Yeung, 2017, Clinica chimica acta; international journal of clinical chemistry.

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients.

C. Lam, C. Mak, A. Chan, 2011, Hong Kong medical journal = Xianggang yi xue za zhi.

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

C. Lam, C. Mak, A. Chan, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors

K. To, A. Tam, I. Hung, 2021, Endocrinology and metabolism.

Thyroid Dysfunction in Relation to Immune Profile, Disease Status and Outcome in 191 Patients with COVID-19

K. To, A. Tam, I. Hung, 2020, The Journal of clinical endocrinology and metabolism.

Wilson's disease: a patient undiagnosed for 18 years.

S. Fan, C. Lam, C. Mak, 2006, Hong Kong medical journal = Xianggang yi xue za zhi.

Diagnosis of Wilson's Disease: A Comprehensive Review

C. Lam, C. Mak, 2008, Critical reviews in clinical laboratory sciences.

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation

T. Leung, C. Lam, L. Chan, 2010, Neurology.

DPYD genotype-guided dose individualisation of fluoropyrimidine therapy: who and how?

V. Lee, K. Lam, C. Lam, 2019, The Lancet. Oncology.

Jervell-Lange Nielsen syndrome in a Pakistani family.

C. Lam, N. Fong, Y. Chan, 2004, Hong Kong medical journal = Xianggang yi xue za zhi.

Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency

V. Wong, C. Lam, Kwok-Yin Chan, 2011, Journal of child neurology.

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

C. Lam, Hencher Han-Chih Lee, C. Mak, 2011, The International journal of neuroscience.

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

N. Pan, C. Lam, K. Lee, 2020, Clinical genetics.

DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray.

C. Lam, S. Tong, K. Cheung, 2005, The Journal of investigative dermatology.

Enumeration of isomers of alkylcyclopropanes by means of alkyl 1,1‐biradicals

C. Lam, 2000 .

Correction of Positive Bias of the Roche Tina-quant II Hemoglobin A 1 c ( HbA 1 c ) Assay at Low HbA 1 c Percentages

J. M. Porcel, C. Lam, C. Rivas, 2001 .

Ketoconazole Induced Torsades de Pointes Without Concomitant Use of QT Interval‐Prolonging Drug

N. Mok, C. Lam, P. Tsui, 2005, Journal of cardiovascular electrophysiology.

leukemia Oral arsenic trioxide in the treatment of relapsed acute promyelocytic

C. Kumana, W. Au, Y. Kwong, 2011 .

Oral arsenic trioxide in the treatment of relapsed acute promyelocytic leukemia.

C. Kumana, W. Au, Y. Kwong, 2003, Blood.

Glucose‐6‐phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la

K. Choy, N. M. Hjelm, C. Pang, 1998, Clinical genetics.

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

C. Lam, Y. Chan, K. Y. Chan, 1995, Clinical molecular pathology.

A Novel DPYD Variant Associated With Severe Toxicity of Fluoropyrimidines: Role of Pre-emptive DPYD Genotype Screening

V. Lee, K. Lam, C. Lam, 2018, Front. Oncol..

Atypical focal cortical dysplasia in a patient with Cowden syndrome.

C. Lam, W. Siu, K. Cheung, 2014, Hong Kong medical journal = Xianggang yi xue za zhi.

Possible case of Pitt-Hopkins syndrome in sibs.

F. Torricelli, C. Lam, M. Zappella, 2001, American journal of medical genetics.

Genome-based diagnosis of genetic disease.

C. Lam, 2010, The Indian journal of medical research.

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.

C. Lam, Kwok-Yin Chan, Chi-kong Lai, 2007, Clinica chimica acta; international journal of clinical chemistry.

First application of denaturing high‐performance liquid chromatography (DHPLC) for prenatal diagnosis of genetic disease

C. Lam, 2002, Prenatal diagnosis.

Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.

C. Lam, C. Lai, K. Au, 2003, Hong Kong medical journal = Xianggang yi xue za zhi.

Genotype-confirmed alanine aminotransferase deficiency in a Chinese patient with acute liver failure: a potential diagnostic pitfall.

S. Tam, C. Lam, C. Mak, 2010, Pathology.

Endometriosis with myxoid change mimicking pseudomyxoma peritonei

S. Tam, C. Lam, C. Mak, 2009 .

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

C. Lam, K. Au, C. Shek, 2005, Clinica chimica acta; international journal of clinical chemistry.

Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

P. Marcolongo, A. Benedetti, D. Melis, 1999, FEBS letters.

Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.

C. Lam, A. Chan, S. Tong, 2005, Clinica chimica acta; international journal of clinical chemistry.

Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient.

T. Siu, S. Tam, C. Lam, 2013, Clinica chimica acta; international journal of clinical chemistry.

RASSF1A is a target tumor suppressor from 3p21.3 in nasopharyngeal carcinoma

J. Kwong, R. Dammann, C. Lam, 2004, International journal of cancer.

DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone.

C. Lam, C. Shek, S. Tong, 2005, Clinica chimica acta; international journal of clinical chemistry.

A prospective follow-up on thyroid function, thyroid autoimmunity and long COVID among 250 COVID-19 survivors

K. To, A. Tam, I. Hung, 2023, Endocrine.

X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.

C. Lam, W. Siu, S. Tong, 2013, Clinica chimica acta; international journal of clinical chemistry.

Familial Parkinsonism with digenic parkin and PINK1 mutations

S. Yazawa, N. Hattori, R. Djaldetti, 2008, Movement disorders : official journal of the Movement Disorder Society.

Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC.

K. L. Choi, A. Lo, C. Lam, 2001, Clinical chemistry.

Application of pharmacogenetics: UGT1A1*28 and nilotinib-induced unconjugated hyperbilirubinaemia in a patient with chronic myeloid leukaemia.

S. Tam, Y. Kwong, C. Lam, 2011, Pathology.

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Ching-lung Lai, C. Lam, C. Law, 2021, Clinical toxicology.

Simultaneous fluorescence detection of fecal urobilins and porphyrins by reversed-phase high-performance thin-layer chromatography.

C. Lam, C. Lai, Y. Chan, 1998, Clinical chemistry.

Laboratory diagnosis of melioidosis: Past, present and future

K. Yuen, Kim-Chung Lee, S. Lau, 2015, Experimental biology and medicine.

Glutathione and thioredoxin antioxidant pathways synergize to drive cancer initiation and progression.

S. Inoue, D. Cescon, T. Mak, 2015, Cancer cell.

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

Chi-kong Li, M. S. Yan, C. Lam, 2007, Clinica chimica acta; international journal of clinical chemistry.

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.

C. Lam, P. Chan, W. Poon, 2011, Clinica chimica acta; international journal of clinical chemistry.

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

C. Lam, C. Law, Ka-chung Wong, 2019, Clinica Chimica Acta.

Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II

T. Siu, S. Tam, C. Lam, 2010, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Microarrays for personalized genomic medicine.

C. Lam, S. Tong, Kin-Chong Lau, 2010, Advances in clinical chemistry.

Molecular Biological Analyses and Molecular Pathology in Clinical Chemistry

Y. Lo, I. Wong, C. Lam, 2000 .

Solid tumors subsequent to arsenic trioxide treatment for acute promyelocytic leukemia.

C. Kumana, V. Cheng, W. Au, 2007, Leukemia research.

Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism

D. Jin, C. Lam, H. V. Tang, 2016, Behavioural Brain Research.

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong

K. Kwong, W. Tang, E. Lau, 2016, Clinical and Translational Medicine.

Untargeted mass spectrometry-based metabolomic profiling of pleural effusions: fatty acids as novel cancer biomarkers for malignant pleural effusions.

C. Lam, C. Law, 2014, Journal of proteome research.

Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.

C. Lam, D. Goh, H. Ong, 2013, Clinica chimica acta; international journal of clinical chemistry.

Candidate Screening through High‐Density SNP Array

C. Lam, Kc Lau, 2012 .

Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

W. Hwu, L. Wong, C. Lam, 1998, Human Genetics.

Genetics of familial amyloidotic polyneuropathy in a Hong Kong Chinese kindred

C. Lam, C. L. Liu, S. Tam, 2003, Acta neurologica Scandinavica.

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

V. Wong, C. Pang, T. Fok, 2000, Journal of medical genetics.

Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: a cautionary note.

S. Tam, Y. Kwong, C. Lam, 2015, Blood Cells, Molecules & Diseases.

Genetic variation of glycoproteins B and H of human herpesvirus 7 in Hong Kong

Chi-kong Li, C. Lam, V. Lee, 2003, Journal of medical virology.

A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.

C. Lam, C. Lai, Hencher Han-Chih Lee, 2010, Hong Kong medical journal = Xianggang yi xue za zhi.

The Impact of Interferon Beta-1b Therapy on Thyroid Function and Autoimmunity Among COVID-19 Survivors

K. To, A. Tam, I. Hung, 2021, Frontiers in Endocrinology.

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.

C. Lam, C. Fung, Hencher Han-Chih Lee, 2015, Clinica chimica acta; international journal of clinical chemistry.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

H. Leung, C. Lam, C. Law, 2017, European Journal of Human Genetics.

The prevalence of narcolepsy among Chinese in Hong Kong

Y. Wing, C. Lam, C. Ho, 2002, Annals of neurology.

Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.

C. Lam, C. Lai, Y. Yuen, 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Automated imaging of circulating fluorocytes for the diagnosis of erythropoietic protoporphyria: a pilot study for population screening

C. Lam, Kin-Chong Lau, 2008, Journal of medical screening.

DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.

T. Siu, S. Tam, C. Lam, 2009, Clinica chimica acta; international journal of clinical chemistry.

Lipid metabolites as potential diagnostic and prognostic biomarkers for acute community acquired pneumonia

Samson S. Y. Wong, Kong-Hung Sze, K. To, 2016, Diagnostic Microbiology and Infectious Disease.

Diagnosis and spectrum of melamine-related renal disease: plausible mechanism of stone formation in humans.

Samson S. Y. Wong, P. Tam, K. Yuen, 2009, Clinica chimica acta; international journal of clinical chemistry.

A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

R. Ma, C. Cockram, C. Lam, 2007, Hong Kong medical journal = Xianggang yi xue za zhi.

MECP2 mutation in male patients with non‐specific X‐linked mental retardation

A. Federico, M. Dotti, C. Lam, 2000, FEBS letters.

Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.

S. Tam, C. Lam, C. Mak, 2008, Clinica chimica acta; international journal of clinical chemistry.

Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects.

S. Tam, C. Lam, C. Mak, 2008, Clinical chemistry.

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

S. Ha, C. Lam, M. Chan, 2006, Journal of Human Genetics.

A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.

C. Lam, A. Chan, C. Shek, 2004, Chinese medical journal.

Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient.

C. Lam, Kin-Chong Lau, 2008, Clinica chimica acta; international journal of clinical chemistry.

Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.

C. Lam, C. Mak, 2006, Clinical chemistry.

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.

T. Siu, S. Tam, C. Lam, 2013, Clinical biochemistry.

Allele dropout caused by a non-primer-site SNV affecting PCR amplification--a call for next-generation primer design algorithm.

C. Lam, C. Mak, 2013, Clinica chimica acta; international journal of clinical chemistry.

Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure.

George C Tseng, Paul D Allen, Lameh Fananapazir, 2002, Physiological genomics.

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

C. Lam, N. Fong, C. Law, 2015, Clinica chimica acta; international journal of clinical chemistry.

Intra‐familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations

C. Lam, P. Ng, W. Yeung, 2010, Developmental medicine and child neurology.

Diagnosis of Wilson's disease: a comprehensive review.

C. Lam, C. Mak, 2008, Critical reviews in clinical laboratory sciences.

Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese

S. Tam, Y. Kwong, C. Lo, 2007, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

A novel CASR gene mutation in an octogenarian with asymptomatic hypercalcaemia.

R. Ma, P. Tong, C. Cockram, 2008, Hong Kong medical journal = Xianggang yi xue za zhi.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

A. Gunduz, C. Yalçınkaya, J. Reiss, 2010, Brain and Development.

Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.

K. Poskitt, P. Waters, C. Lam, 2007, Neuropediatrics.

A 21-Year-Old Pregnant Woman with Hypertension and Proteinuria

A. Kong, W. So, R. Ma, 2009, PLoS medicine.

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Y. Lau, S. Fan, S. Tam, 2008, Journal of Human Genetics.

patients with infantile autism and Rett syndrome gene in MECP2 Spectrum of mutations in the

V. Wong, C. Pang, C. Lam, 2006 .

A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome.

R. Ozaki, A. Kong, J. Chan, 2008, Clinica chimica acta; international journal of clinical chemistry.

Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children

C. Lam, C. Chow, C. Mak, 2013, World Journal of Pediatrics.

Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome.

P. Khong, V. Wong, C. Ooi, 2002, Pediatric neurology.

Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

N. Mok, C. Lam, N. Fong, 2018, Hong Kong medical journal = Xianggang yi xue za zhi.

A novel Dral polymorphism in the 3‘ untranslated region of human glucose‐6‐phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a

C. Pang, L. Wong, C. Lam, 1998 .

Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes

B. Tomlinson, C. Pang, L. Baum, 2003, Human mutation.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series

W. Chu, G. Brea-Calvo, C. Lam, 2019, Pathology (Sydney).

Galactorrhea—A strong clinical clue towards the diagnosis of neurotransmitter disease

C. Lam, S. Tong, J. Hui, 2006, Brain and Development.

Glycogen storage disease type Ib: the first case in Taiwan.

Y. Chien, W. Hwu, C. Lam, 2009, Pediatrics and neonatology.

Identification of a novel missense mutation (G149E) in the glucose‐6‐phosphate translocase gene in a Chinese family with glycogen storage disease 1b

C. Lam, S. Tong, P. Lim, 1999 .

Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene

F. Martiniuk, C. Lam, C. Lai, 2003, Neurology.

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with COQ10 deficiency: An underdiagnosed cause of mitochondriopathy.

W. Chu, G. Brea-Calvo, C. Lam, 2019, Clinica chimica acta; international journal of clinical chemistry.

Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

C. Lam, Kwok-Yin Chan, L. Au, 2020, Clinical Neurology and Neurosurgery.

Whole-exome sequencing of a quartet family identifies DTYMK mutations in siblings with mitochondrial DNA depletion syndrome.

C. Lam, C. Law, Ka-chung Wong, 2019, Clinica chimica acta; international journal of clinical chemistry.

A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis.

T. Siu, S. Tam, C. Lam, 2007, Clinica chimica acta; international journal of clinical chemistry.

Novel donor splice site mutation of ABCG5 gene in sitosterolemia.

C. Lam, S. Tong, Y. Chan, 2002, Molecular genetics and metabolism.

Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus.

C. Lam, C. Law, K. Ng, 2016, Clinica chimica acta; international journal of clinical chemistry.

Long COVID in Patients With Mild to Moderate Disease: Do Thyroid Function and Autoimmunity Play a Role?

K. To, A. Tam, I. Hung, 2021, Endocrine Practice.

Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.

C. Lam, Y. Yuen, S. Tong, 2006, Clinica chimica acta; international journal of clinical chemistry.

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.

C. Lam, Y. Chong, C. Mak, 2014, European journal of paediatric neurology.

Higher SARS-CoV-2 viral loads correlated with smaller thyroid volumes on ultrasound among male COVID-19 survivors

K. To, A. Tam, I. Hung, 2021, Endocrine.

Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.

C. Lam, C. Shek, Ching-yin Lee, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

G. Wong, C. Lam, C. Mak, 2011, Familial Cancer.

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.

C. Lam, Kwok-Yin Chan, C. Mak, 2015, Clinica chimica acta; international journal of clinical chemistry.

Arginase deficiency with new phenotype and a novel mutation: contemporary summary.

V. Wong, T. Siu, S. Tam, 2012, Pediatric Neurology.

Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.

C. Lam, C. Lai, C. Shek, 2007, Hong Kong medical journal = Xianggang yi xue za zhi.

Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

W. So, C. Chow, C. Lam, 2011, Chinese medical journal.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

C. Lam, C. Law, Ka-Sing Wong, 2016, European Journal of Human Genetics.

A Case of Perinatal Lethal Form of Hypophosphatasia; and Review of Literatures

C. Lam, A. Lam, S. Lam, 2006 .

Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death.

Y. Mak, C. Lam, Y. Yuen, 2003, Chinese medical journal.

Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.

T. Siu, S. Tam, C. Lam, 2011, Chinese medical journal.

A prospective follow-up on thyroid function, thyroid autoimmunity and long COVID among 250 COVID-19 survivors

K. To, A. Tam, I. Hung, 2023, Endocrine.

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

C. Lam, T. Mak, S. Tong, 2004, Molecular genetics and metabolism.

Severe Congenital Myasthenia Gravis of the Presynaptic Type with Choline Acetyltransferase Mutation in a Chinese Infant with Respiratory Failure

C. Lam, W. Yeung, L. W. Fung, 2008, Neonatology.

Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene.

T. Fok, C. Lam, W. Yeung, 2005, Chinese medical journal.

Identification of specific metabolites in culture supernatant of Mycobacterium tuberculosis using metabolomics: exploration of potential biomarkers

P. Woo, K. Yuen, Kim-Chung Lee, 2015, Emerging Microbes & Infections.

Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis.

M. Tsang, C. Lam, C. Mak, 2011, Clinica chimica acta; international journal of clinical chemistry.

Personalized Medicine Switching from Insulin to Sulfonylurea in Permanent Neonatal Diabetes Mellitus Dictated by a Novel Activating ABCC8 Mutation

C. Lam, C. Mak, A. Chan, 2012, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Metabolomic Profiling of Plasma from Melioidosis Patients Using UHPLC-QTOF MS Reveals Novel Biomarkers for Diagnosis

P. Woo, K. To, K. Yuen, 2016, International journal of molecular sciences.

Pearson's syndrome: a rare cause of non-immune hydrops fetalis.

C. Lam, Chak-ho Li, N. Kwong, 2003, Chinese medical journal.

A fast modified protocol for random-access ultra-high density whole-genome scan: a tool for personalized genomic medicine, positional mapping, and cytogenetic analysis.

C. Lam, C. Mak, T. Tsoi, 2009, Clinica chimica acta; international journal of clinical chemistry.

Origin of the Japanese Population

C. Lam, 1999, Science.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

Novel mutations in the PATCHED gene in basal cell nevus syndrome.

Jingwu Xie, C. Lam, S. Tong, 2002, Molecular genetics and metabolism.

Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene.

A. Kong, C. Lam, A. Chan, 2005, Hong Kong medical journal = Xianggang yi xue za zhi.

A prospective follow-up of thyroid volume and thyroiditis features on ultrasonography among survivors of predominantly mild to moderate COVID-19

K. To, A. Tam, I. Hung, 2023, PeerJ.

Production of 2-Aminophenoxazin-3-one by Staphylococcus aureus Causes False-Positive Results in β-Galactosidase Assays

K. Yuen, Kim-Chung Lee, K. Sze, 2012, Journal of Clinical Microbiology.

Metabolomics Analysis Reveals Specific Novel Tetrapeptide and Potential Anti-Inflammatory Metabolites in Pathogenic Aspergillus species

P. Woo, K. To, K. Yuen, 2015, International journal of molecular sciences.

Homoplasmic 3316G→A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism?

C. Pang, M. Tsang, C. Lam, 2001, Journal of medical genetics.

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.

J. Williams, C. Lam, Y. Chan, 1997, European journal of pediatrics.

Alcoholic ketoacidosis in two Chinese patients.

R. Chiu, C. Lam, H. Tai, 2000, Chinese Medical Journal.

Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome

C. Lam, S. T. Chang, Ka-chung Wong, 2021, Journal of Human Genetics.

[Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes].

C. Pang, M. Tsang, C. Lam, 2003, Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae.

Insights From Prospective Follow-up of Thyroid Function and Autoimmunity Among Covid-19 Survivors

K. To, A. Tam, I. Hung, 2021, Journal of the Endocrine Society.

Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene.

C. Lam, S. Tong, W. Wong, 2011, Hong Kong medical journal = Xianggang yi xue za zhi.

The familial risk and HLA susceptibility among narcolepsy patients in Hong Kong Chinese.

S. Cheng, Y. Wing, C. Lam, 2007, Sleep.

Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.

C. Lam, D. Goh, H. Ong, 2013, Clinica chimica acta; international journal of clinical chemistry.

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia

A. Gunduz, C. Yalçınkaya, J. Reiss, 2010, Brain and Development.

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

C. Lam, S. Tong, Y. Zha, 2011, The Laryngoscope.

An Unsupervised Machine Learning Clustering and Prediction of Differential Clinical Phenotypes of COVID-19 Patients Based on Blood Tests—A Hong Kong Population Study

K. Tsia, C. Lam, V. Vardhanabhuti, 2022, Frontiers in Medicine.