C. Mak

发表

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.

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.

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 .

Effects of a plasma heating procedure for inactivating Ebola virus on common chemical pathology tests.

Y. Chong, C. Mak, S. Chen, 2015, Hong Kong medical journal = Xianggang yi xue za zhi.

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.

Emerging technologies in paediatric laboratory medicine

I. Papassotiriou, T. P. Loh, C. Mak, 2021, Journal of Laboratory Medicine.

Correlation study between spot urine protein-to-creatinine ratio and 24-hour urine protein measurement in 174 patients for proteinuria assessment

S. Tam, T. Chan, Hencher Han-Chih Lee, 2011 .

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.

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.

Hencher Han-Chih Lee, C. Mak, S. Cherk, 2012, Clinical genetics.

Optimising the utility of pleural fluid adenosine deaminase for the diagnosis of adult tuberculous pleural effusion in Hong Kong.

W. C. Yu, C. Mak, S. P. Chen, 2017, Hong Kong medical journal = Xianggang yi xue za zhi.

Mutational analysis for Wilson's disease

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

Title Cost-effectiveness analysis of newborn screening for organicacidemias in Hong Kong

J. Johnston, C. Mak, NG VincentHo-lam, 2016 .

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.

Survey on Chemical Pathology Teaching in Medical Curricula: Insight into Patient Safety

C. Mak, 2018 .

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.

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.

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3

Y. Chong, C. Mak, B. Sheng, 2018, Journal of Clinical Neuroscience.

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.

Biochemical Diagnosis of Wilson Disease

C. Mak, 2019, Clinical and Translational Perspectives on WILSON DISEASE.

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.

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.

MELAS, MIDD and Beyond: m.3243A>G MT-TL1 Mutation in Adult Patients

C. Mak, S. Chen, B. Sheng, 2016 .

Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.

Hencher Han-Chih Lee, C. Mak, Kam-cheong Lee, 2020, Genetic testing and molecular biomarkers.

Novel use of idebenone in Leber's hereditary optic neuropathy in Hong Kong.

C. Mak, C. Ko, C. Y. Lee, 2014, Hong Kong medical journal = Xianggang yi xue za zhi.

Clinical manifestation of late onset Pompe disease patients in Hong Kong

Hencher Han-Chih Lee, C. Mak, K. Lau, 2016, Neuromuscular Disorders.

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 .

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants

B. Finck, Hencher Han-Chih Lee, C. Mak, 2019, F1000Research.

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

C. Mak, K. Tsang, T. Chan, 2021, Journal of Laboratory Medicine.

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome

C. Antzelevitch, A. Wilde, C. Pappone, 2021, EBioMedicine.

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.

K. Au, C. Mak, Y. Yuen, 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

Severe acquired chylomicronaemia syndrome — a challenge to the routine laboratory

K. Ng, C. Mak, S. Tam, 2004, British journal of biomedical science.

Biomedical Science in Brief.

Z. Memish, A. Hajeer, S. Conroy, 2004, British journal of biomedical science.

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.

A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency.

Hencher Han-Chih Lee, C. Mak, C. Ching, 2014, Hong Kong medical journal = Xianggang yi xue za zhi.

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.

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.

Novel Insertion 496_497insG Creating a Stop Codon D194X in a Chinese Family with X-Linked Adrenoleukodystrophy

S. Tam, A. W. Tso, C. Mak, 2005, Hormone Research in Paediatrics.

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.

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

Survey on common reference intervals for general chemistry analytes in Hong Kong.

C. Mak, S. P. Chen, Y. Lo, 2019, Hong Kong medical journal = Xianggang yi xue za zhi.

Hereditary spastic paraplegias.

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

Circulatory collapse in a patient with gastrinoma after metoclopramide administration.

Hencher Han-Chih Lee, C. Mak, A. Chan, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

Hypoglycaemia due to autoimmune insulin syndrome in a 78-year-old Chinese man

C. Mak, K. Lam, S. Tam, 2012, British journal of biomedical science.

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.

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.

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.

Diagnosis of Wilson's disease: a comprehensive review.

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

Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.

Hencher Han-Chih Lee, C. Mak, S. Chen, 2019, Journal of neuropathology and experimental neurology.

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.

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.

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

C. Mak, Tsz Ki Wong, Ching Tung Choi, 2022, International journal of neonatal screening.

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.

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.

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

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

Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

C. Mak, N. K. Lau, C. Yeung, 2018, Chinese medical journal.

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.

S. Tam, C. Mak, K. Lam, 2004, Molecular genetics and metabolism.

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.

Comparing the performance of risk stratification scores in Brugada syndrome: a multi-centre study

G. Bazoukis, N. Mok, C. Mak, 2021, medRxiv.

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

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

Halt hereditary tragedy by bridging the gap between knowledge and application of technology.

C. Mak, E. Y. Ng, K. Lau, 2015, Hong Kong medical journal = Xianggang yi xue za zhi.

Clinical and Genetic Characterization of Huntington Disease among Hong Kong Chinese – A 5-year Review

K. Au, W. Poon, C. Mak, 2018 .

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.

Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives.

H. Shum, N. Mok, N. Fong, 2019, Hong Kong medical journal = Xianggang yi xue za zhi.

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.

C. Mak, S. Yip, W. Ng, 2018, Journal of cardiology cases.

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.

Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1.

C. Mak, K. Ma, K. Tsui, 2020, Pediatric neurology.

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.

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.

A case of ‘crouching’ triglyceride and ‘hidden’ cholesterol

C. Mak, R. Pang, S. Tam, 2004, British journal of biomedical science.

Performance evaluation of five commercial assays for detection of acetaminophen

Hencher Han-Chih Lee, C. Mak, Baomin Chan, 2018, Journal of clinical laboratory analysis.

Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

C. Fung, C. Mak, H. Luk, 2023, International journal of neonatal screening.

Presumptive diagnosis of brucellosis from contaminated blood cultures in an area of endemicity

K. Ng, C. Mak, Z. Memish, 2004, British journal of biomedical science.

In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.

Y. Chong, C. Shek, C. Mak, 2021, Pathology.

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome

C. Antzelevitch, A. Wilde, C. Pappone, 2022, EBioMedicine.

Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3

Y. Chong, C. Mak, B. Sheng, 2018, Journal of Clinical Neuroscience.

Determination of cerebrospinal fluid adenosine deaminase activity cut-off for the diagnosis of tuberculous meningitis in Hong Kong

C. Mak, C. Ching, S. Chen, 2020, Journal of Clinical Pathology.

Hencher Han-Chih Lee, C. Mak, S. Cherk, 2012, Clinical genetics.

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.

NMR-based urinalysis for beta-ketothiolase deficiency.

C. Lam, C. Mak, C. Ching, 2015, Clinica chimica acta; international journal of clinical chemistry.

Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey

J. Bonham, T. P. Loh, G. Salomons, 2022, EJIFCC.

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.

N. Hanchard, Hencher Han-Chih Lee, C. Mak, 2018, Clinica chimica acta; international journal of clinical chemistry.

Computer-Assisted patient identification tool in Inborn errors of metabolism – Potential for rare disease patient registry and big data analysis

C. Mak, Pauline Woo, Felicite Enyu Song, 2024, Clinica Chimica Acta.