Ching-Wan Lam: search on Z-Library

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1

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

Wai-Lan Yeung, Ching-Wan Lam, Pak-Cheung Ng

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 59 KB

english, 2010

2

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

Cho, Sun Young, Siu, Tak-Shing, Ma, Oliver, Tam, Sidney, Lam, Ching-wan

Journal:

Clinica Chimica Acta

Year:

2013

Language:

english

File:

PDF, 578 KB

english, 2013

3

Clinical classification of pleural effusion using 1H NMR spectroscopy

Law, Eric Chun-yiu, Lam, Ching-wan

Journal:

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

4

A metabonomic approach for biomarker discovery for diagnosis of malignant pleural effusions (MPE)

Lam, Ching-wan, Law, Chun-yiu

Journal:

Year:

2015

Language:

english

File:

PDF, 45 KB

english, 2015

5

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

Ching-Wan Lam, Wai-Man But, Chi-Chung Shek, Sui-Fan Tong, Yuen-Shan Chan, Kwong-Wai Choy, Wing-Yee Tse, Chi-Pui Pang, Nils Magnus Hjelm

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.54 MB

english, 1998

6

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

NGAI-SHING MOK, YING-KEUNG LO, PING-TIM TSUI, CHING-WAN LAM

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2005

Language:

english

File:

PDF, 129 KB

english, 2005

7

A frequent activated smoothened mutation in sporadic basal cell carcinomas

Lam, Ching-Wan, Xie, Jingwu, To, Ka-Fai, Ng, Ho-Keung, Lee, Kam-Cheong, Yuen, Nancy Wah-Fun, Lim, Pak-Leong, Chan, Lisa Yuen-Shan, Tong, Sui-Fan, McCormick, Frank

Journal:

Year:

1999

Language:

english

File:

PDF, 416 KB

english, 1999

8

Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

Wing-Tat Poon, Kwok-Yin Chan, Kam-Ming Au, Sui-Fan Tong, Yan-Wo Chan, Ching-Wan Lam, Chun-Bong Chow

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 241 KB

english, 2006

9

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, Ching-Wan Lam, Chun-Yiu Law, Sik-To Lai, Tak-Yin Tsang, Carol Wai-Kwan Siu, Wing-Kin To, Ka-Fai Leung, Chloe Miu Mak, Wing-Tat Poon, Paul Kay-Sheung Chan, Yan-Wo Chan

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 782 KB

english, 2011

10

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

Mak, Chloe Miu, Sheng, Bun, Lee, Hencher Han-chih, Lau, Kwok-kwong, Chan, Wing-tak, Lam, Ching-wan, Chan, Yan-wo

Journal:

International Journal of Neuroscience

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

11

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

Tse, Herman, Yang, Dan, Sze, Kong-Hung, Chu, Ivan K., Kao, Richard Y. T., Lee, Kam-Chung, Lam, Ching-Wan, Gu, Qiangshuai, Tai, Sherlock Shing-Chiu, Ke, Yihong, Chan, Elaine, Chan, Wan-Mui, Dai, Jun, L

Journal:

Journal of Biological Chemistry

Year:

2017

Language:

english

File:

PDF, 3.57 MB

english, 2017

12

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

Mak, Chloe Miu, Fong, Bonnie Mei-wah, Lam, Ching-wan, Tam, Sidney

Journal:

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

13

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

Lee, Kim-Chung, Tam, Emily, Lo, Ka-Ching, Tsang, Alan, Lau, Candy, To, Kelvin, Chan, Jasper, Lam, Ching-Wan, Yuen, Kwok-Yung, Lau, Susanna, Woo, Patrick

Journal:

International Journal of Molecular Sciences

Year:

2015

Language:

english

File:

PDF, 2.36 MB

english, 2015

14

Novel Single Nucleotide Polymorphism (9678GâA) for Linkage Analysis of Acute Intermittent Porphyria

Law, Wai-Keung, Choy, Kwong-Wai, Lam, Ching-Wan

Journal:

Clinical Chemistry

Year:

1999

File:

PDF, 182 KB

1999

15

Epigenetic inactivation of TSLC1 gene in nasopharyngeal carcinoma

Angela Bik-Yu Hui, Kwok-Wai Lo, Joseph Kwong, Eric Ching-Wan Lam, Sylvia Yat-Yee Chan, Lillian Shuk-Nga Chow, Andrew Siu-Chung Chan, Peter Man-Lung Teo, Dolly P. Huang

Journal:

Molecular Carcinogenesis

Year:

2003

Language:

english

File:

PDF, 294 KB

english, 2003

16

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

Kin-Chong Lau, Ching-Wan Lam

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 126 KB

english, 2008

17

Untargeted Mass Spectrometry-Based Metabolomic Profiling of Pleural Effusions: Fatty Acids as Novel Cancer Biomarkers for Malignant Pleural Effusions

Lam, Ching-Wan, Law, Chun-Yiu

Journal:

Journal of Proteome Research

Year:

2014

Language:

english

File:

PDF, 1.79 MB

english, 2014

18

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

Chen, Sammy Pak-lam, Poon, Wing-tat, Mak, Chloe Miu, Lam, Ching-wan, Kwong, Yok-lam, Chan, Albert Yan-wo, Tam, Sidney

Journal:

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

19

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?

Yang Zha, Xing-ming Chen, Ching-wan Lam, Soo-chin Lee, Sui-fan Tong, Zhi-qiang Gao

Journal:

The Laryngoscope

Year:

2011

Language:

english

File:

PDF, 477 KB

english, 2011

20

Familial Parkinsonism with digenic parkin and PINK1 mutations

Manabu Funayama, Yuanzhe Li, Tak-Hong Tsoi, Ching-Wan Lam, Takekazu Ohi, Shogo Yazawa, Eiichiro Uyama, Ruth Djaldetti, Eldad Melamed, Hiroyo Yoshino, Yoko Imamichi, Hiroshi Takashima, Kenya Nishioka,

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 418 KB

english, 2008

21

Definition of the correct sequence in the donor splice site of intron 2 in the human glucose 6-phosphate translocase gene

Ching-Wan Lam, Bik-Yan Chan, Sui-Fan Tong

Journal:

Year:

1999

Language:

english

File:

PDF, 156 KB

english, 1999

22

Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome

Pek-Lan Khong, Ching-Wan Lam, Clara G.C Ooi, Chun-Hung Ko, Virginia C.N Wong

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 216 KB

english, 2002

23

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

Lam, Ching-wan, Yeung, Wai-lan, Law, Chun-yiu

Journal:

Clinica Chimica Acta

Year:

2017

Language:

english

File:

PDF, 561 KB

english, 2017

24

Cross reactivity between fibrinogen and epsilon heavy chain antiserum in immunofixation electrophoresis

Tai, Hok-Leung, Lam, Ching-Wan, Lam, Christopher W. K., Ng, Charles K. F., Cheung, Robert C. K.

Journal:

Year:

2005

Language:

english

File:

PDF, 182 KB

english, 2005

25

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

Lillian Shuk-Nga Chow, Kwok-Wai Lo, Joseph Kwong, Ka-Fai To, Kam-Sze Tsang, Ching-Wan Lam, Reinhard Dammann, Dolly P. Huang

Journal:

International Journal of Cancer

Year:

2004

Language:

english

File:

PDF, 660 KB

english, 2004

26

Solid tumors subsequent to arsenic trioxide treatment for acute promyelocytic leukemia

Wing-Yan Au, Cyrus R. Kumana, Ching-Wan Lam, Vincent C.C. Cheng, Tony W. Shek, Eric Y.T. Chan, Rico Liu, Yok-Lam Kwong

Journal:

Leukemia Research

Year:

2007

Language:

english

File:

PDF, 446 KB

english, 2007

27

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

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 38 KB

english, 2002

28

10.1038/34201

Jr, Ervin H. Epstein, de Sauvage, Frederic J., Xie, Jingwu, Murone, Maximilien, Luoh, Shiuh-Ming, Ryan, Anne, Gu, Qimin, Zhang, Chaohui, Bonifas, Jeannette M., Lam, Ching-Wan, Hynes, Mary, Goddard, Au

Journal:

Year:

1998

Language:

english

File:

PDF, 457 KB

english, 1998

29

DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography

Ching-Wan Lam, Chi-Keung Li, Chi-Kong Lai, Sui-Fan Tong, Kwok-Yin Chan, Grace Sui-Fun Ng, Yuet-Ping Yuen, Anna Wai-Fun Cheng, Yan-Wo Chan

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 1.30 MB

english, 2002

30

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

Ching-Wan Lam, Ka-Fai Lee, Angel On-Kei Chan, Priscilla Miu-Kuen Poon, Tak-Yin Law, Sui-Fan Tong

Journal:

Clinica Chimica Acta

Year:

2005

Language:

english

File:

PDF, 207 KB

english, 2005

31

Novel mutations in the PATCHED gene in basal cell nevus syndrome

Ching-Wan Lam, Chi-Yan Leung, Kam-Cheong Lee, Jingwu Xie, Fai-Man Lo, Tak-Shing Au, Sui-Fan Tong, Miu-Kuen Poon, Loi-Yuen Chan, Nai-Ming Luk

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

32

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

Lee, Han-Chih Hencher, Lai, Chi-Kong, Siu, Tak-Shing, Yuen, Yuet-Ping, Chan, Kwok-Yin, Chan, Albert Yan-Wo, Tam, Sidney, Mak, Chloe Miu, Lam, Ching-Wan

Journal:

Diagnostic Molecular Pathology

Year:

2010

Language:

english

File:

PDF, 90 KB

english, 2010

33

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

Lam, Ching-Wan, Law, Chun-Yiu, Leung, Ka-Fei, Lai, Chi-Kong, Pak-lam Chen, Sammy, Chan, Bosco, Chan, Kwok-yin, Yuen, Yuet-ping, Mak, Chloe Miu, Yan-wo Chan, Albert

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 483 KB

english, 2015

34

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

Lam, Ching-Wan, Wong, Ka-Sing, Leung, Ho-Wan, Law, Chun-Yiu

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.64 MB

english, 2017

35

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

Ching-Wan Lam, Kin-Chong Lau, Chloe Miu Mak, Man-Wo Tsang, Yan-Wo Chan

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 992 KB

english, 2011

36

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

Alfredo Orrico, Ching-Wan Lam, Lucia Galli, Maria Teresa Dotti, Giuseppe Hayek, Sui-Fan Tong, Priscilla M.K. Poon, Michele Zappella, Antonio Federico, Vincenzo Sorrentino

Journal:

Year:

2000

Language:

english

File:

PDF, 143 KB

english, 2000

37

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

Mak, Chloe Miu, Lee, Han-Chih Hencher, Chan, Albert Yan-Wo, Lam, Ching-Wan

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

2013

Language:

english

File:

PDF, 425 KB

english, 2013

38

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

Lau, Susanna KP, Lam, Ching-Wan, Curreem, Shirly OT, Lee, Kim-Chung, Lau, Candy CY, Chow, Wang-Ngai, Ngan, Antonio HY, To, Kelvin KW, Chan, Jasper FW, Hung, Ivan FN, Yam, Wing-Cheong, Yuen, Kwok-Yung,

Journal:

Emerging Microbes & Infections

Year:

2015

Language:

english

File:

PDF, 1.88 MB

english, 2015

39

Possible case of Pitt-Hopkins syndrome in sibs

Alfredo Orrico, Lucia Galli, Michele Zappella, Ching-Wan Lam, Stefania Bonifacio, Francesca Torricelli, Giuseppe Hayek

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

40

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

Ching-Wan Lam, Matthew Shu-Ching Yan, Chi-Kong Li, Kin-Chong Lau, Sui-Fan Tong, Hoi-Yin Tang

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 112 KB

english, 2007

41

Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: A cautionary note

Cheung, Carol Y.M., Tam, Sidney, Lam, Ching-Wan, Lie, Albert K.W., Kwong, Yok-Lam

Journal:

Blood Cells, Molecules, and Diseases

Year:

2015

Language:

english

File:

PDF, 144 KB

english, 2015

42

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

Ling, Tsz-ki, Law, Chun-yiu, Ko, Chun-hung, Fong, Nai-chung, Wong, Ka-chung, Lee, Ka-lok, Chu, Winnie Chiu-wing, Brea-Calvo, Gloria, Lam, Ching-wan

Journal:

Clinica Chimica Acta

Year:

2019

Language:

english

File:

PDF, 8.25 MB

english, 2019

43

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

Ching-Wan Lam, Priscilla Miu-Kuen Poon, Sui-Fan Tong, Chun-Hung Ko

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 103 KB

english, 2001

44

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

Paul K.S. Chan, Chi-Kong Li, Ki-Wai Chik, Matthew M.K. Shing, Vincent Lee, King-Cheung Ng, Ching-Wan Lam, Jo L.K. Cheung, Augustine F. Cheng

Journal:

Journal of Medical Virology

Year:

2003

Language:

english

File:

PDF, 71 KB

english, 2003

45

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

L.-J. C. Wong, Min-Hui Liang, Wuh-Liang Hwu, Ching-Wan Lam

Journal:

Year:

1998

Language:

english

File:

PDF, 72 KB

english, 1998

46

Development and promotion in translational medicine: perspectives from 2012 sino-american symposium on clinical and translational medicine

Mengjia Qian, Duojiao Wu, Ena Wang, Francesco M Marincola, Wei Wang, William Rhodes, Michael Liebman, Chunxue Bai, Ching-Wan Lam, Gyorgy Marko-Varga, Thomas E Fehniger, Roland Andersson, Xiangdong Wan

Journal:

Clinical and Translational Medicine

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

47

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

Woo, Patrick C. Y., Lam, Ching-Wan, Tam, Emily W. T., Leung, Chris K. F., Wong, Samson S. Y., Lau, Susanna K. P., Yuen, Kwok-Yung, Small, Pamela L. C.

Journal:

PLoS Neglected Tropical Diseases

Year:

2012

Language:

english

File:

PDF, 420 KB

english, 2012

48

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Cho, Sun Young, Lau, Eunice Yuen-Ting, Luk, David Chi-Kong, Law, Chun-Yiu, Lai, Chi-Kong, Lam, Ching-Wan

Journal:

Clinica Chimica Acta

Year:

2020

File:

PDF, 1.43 MB

2020

49

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

Ching-Wan Lam, Yuet-Ping Yuen, Chi-Kong Lai, Sui-Fan Tong, Lin-Kiu Lau, Kwok-Lung Tong, Yan-Wo Chan

Journal:

American Journal of Kidney Diseases

Year:

2001

Language:

english

File:

PDF, 206 KB

english, 2001

50

Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b

Ching-Wan Lam, A. Orrico, Matthew Shu-Ching Yan, Tat-Yin Law, L. Galli, A. Benedetti, , Sui-Fan Tong, V. Sorrentino

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 129 KB

english, 2006

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