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1

Severe hypokalemic myopathy in Gitelman's syndrome

Nelson L.S. Tang, Joannie Hui, K.F. To, H.K. Ng, N.M. Hjelm, T.F. Fok

Journal:

Year:

1999

Language:

english

File:

PDF, 758 KB

english, 1999

2

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families

Nelson L.S. Tang, Joannie Hui, L.K. Law, Y.Y. Lam, K.Y. Chan, W.L. Yeung, Albert Y.W. Chan, K.L. Cheung, T.F. Fok

Journal:

Year:

2000

Language:

english

File:

PDF, 35 KB

english, 2000

3

Antibodies to guanosine triphosphate misidentified as anti–double-stranded DNA antibodies in a patient with antinuclear antibody–negative lupus, due to buckling of insolubilized assay DNA

Chun Hung Ma, Joannie Hui, Janet Tsui Ying Tang, Danny Tze Ming Leung, Yiu Loon Chui, Tai Fai Fok, Pak-Leong Lim

Journal:

Arthritis & Rheumatism

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

4

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

Nelson L.S. Tang, Joannie Hui, Collin K.K. Yong, Lawrence T.K. Wong, Derek A. Applegarth, Hilary D. Vallance, L.K. Law, Simon L.M. Fung, Tony W.L. Mak, Y.M. Sung, K.L. Cheung, T.F. Fok

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

5

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases

Joannie Hui MBBS, Denise M Kirby, David R Thorburn, A vihu Boneh

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 87 KB

english, 2006

6

ACVR1 mutation and Fibrodysplasia Ossificans Progressiva in Chinese children

Assunta CH Ho, Joannie Hui, KH Chan, KL Liu, Bobby KW Ng, Ivan FM Lo, STS Lam

Journal:

Pediatric Rheumatology

Year:

2011

Language:

english

File:

PDF, 354 KB

english, 2011

7

Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme,N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells

Cecilia Y. S. Ho, Nelson L. S. Tang, Ava K. Y. Yeung, Abby K. C. Lau, Joannie Hui, Anthony W. I. Lo

Journal:

Journal of Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 370 KB

english, 2007

8

Lupus nephritis in Chinese children – a territory-wide cohort study in Hong Kong

Sik-Nin Wong, Kei-Chiu Tse, Tsz-Leung Lee, Kwok-Wai Lee, Stella Chim, Kwok-Piu Lee, Reann Wai-Po Chu, Winnie Chan, Kwok-Wah Fong, Joannie Hui, Samantha Po-Siu Li, Pa-Shing Yeung, So-Fun Yuen, Assunta

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

9

Lupus nephritis in Chinese children — a territory-wide cohort study in Hong Kong

Sik-Nin Wong, Kei-Chiu Tse, Tsz-Leung Lee, Kwok-Wai Lee, Stella Chim, Kwok-Piu Lee, Reann Wai-Po Chu, Winnie Chan, Kwok-Wah Fong, Joannie Hui, Samantha Po-Siu Li, Pa-Shing Yeung, So-Fun Yuen, Assunta

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

10

Membranous lupus nephritis in Chinese children—a case series and review of the literature

Sik-Nin Wong, Winnie Kwai-Yu Chan, Joannie Hui, Stella Chim, Tsz-Leung Lee, Kwok-Piu Lee, Lettie Chuk-Kwan Leung, Niko Kei-Chiu Tse, So-Fun Yuen

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

11

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

Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Sik-To Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-F

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

12

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

Chloe Miu Mak, Ching-Wan Lam, Sidney Tam, Ching-Lung Lai, Lik-Yuen Chan, Sheung-Tat Fan, Yu-Lung Lau, Jak-Yiu Lai, Patrick Yuen, Joannie Hui, Chun-Cheung Fu, Ka-Sing Wong, Wing-Lai Mak, Kong Tze, Sui-

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 301 KB

english, 2008

13

SCALY RASH

Dr Joannie Hui, Nelson Tang

Journal:

Journal of Paediatrics and Child Health

Year:

2010

Language:

english

File:

PDF, 289 KB

english, 2010

14

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

Wai Lan Yeung, Ching Wan Lam, Joannie Hui, Sui Fan Tong, Shun Ping Wu

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

15

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

Eva Lai-wah Fung, Yuan Yuan Ho, Joannie Hui, Jack Ho Wong, Tzi-Bun Ng, Nga-Yin Fion Fong, Joerg Klepper, Kwok-Wing Stephen Tsui

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 446 KB

english, 2011

16

Ocular complications of paediatric patients with nephrotic syndrome

Joan SK Ng, William Wong, Ricky WK Law, Joannie Hui, Esther N Wong, Dennis SC Lam

Journal:

Clinical & Experimental Ophthalmology

Year:

2001

Language:

english

File:

PDF, 284 KB

english, 2001

17

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient

Joannie Hui, Eric Law, Christina Chung, Simon Fung, Patrick Yuen, Nelson Tang

Journal:

World Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 261 KB

english, 2012

18

A novel functional assay for simultaneous determination of total fatty acid β-oxidation flux and acylcarnitine profiling in human skin fibroblasts using 2H31-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry

Lap-Kay Law, Nelson Leung-Sang Tang, Joannie Hui, Chung-Shun Ho, Jos Ruiter, Tai-Fai Fok, Ronald J.A. Wanders, Christopher Wai-Kei Lam

Journal:

Clinica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 262 KB

english, 2007

19

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Lap-Kay Law, Nelson L.S. Tang, Joannie Hui, Simon L.M. Fung, Jos Ruiter, Ronald J.A. Wanders, Tai-Fai Fok, Christopher W.K. Lam

Journal:

Clinica Chimica Acta

Year:

2009

Language:

english

File:

PDF, 276 KB

english, 2009

20

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China

Chi-kong Lau, Joannie Hui, Fion N.Y. Fong, Ka-Fai To, Tai-Fai Fok, Nelson L.S. Tang, Stephen K.W. Tsui

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 381 KB

english, 2011

21

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong

Nelson L.S. Tang, Joannie Hui, L.K. Law, K.F. To, T.W.L. Mak, K.L. Cheung, Peter Vreken, Ronald J.A. Wanders, T.F. Fok

Journal:

Clinica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001

22

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity

Nelson L.S Tang, Joannie Hui, Elisabeth Young, Viki Worthington, Ka-Fai To, Kam-Lau Cheung, Chi-Kong Li, Tai-Fai Fok

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 199 KB

english, 2003

23

Velocity Distribution in Open Channel Flows: Analytical Approach for the Outer Region

Lassabatere, Laurent, Pu, Jaan Hui, Bonakdari, Hossein, Joannis, Claude, Larrarte, Frédérique

Journal:

Journal of Hydraulic Engineering

Year:

2013

Language:

english

File:

PDF, 603 KB

english, 2013

24

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Wuh-Liang Hwu, Torayuki Okuyama, Wai Man But, Sylvia Estrada, Xuefan Gu, Joannie Hui, Motomichi Kosuga, Shuan-Pei Lin, Lock-Hock Ngu, Huiping Shi, Akemi Tanaka, Meow-Keong Thong, Duangrurdee Wattanasi

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 559 KB

english, 2012

25

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

Joannie Hui,Yuet-Ping Yuen,Chung-Mo Chow,Josephine Chong…

Journal:

World Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 562 KB

english, 2013

26

Inherited metabolic diseases in the Southern Chinese population

Hui, Joannie, Tang, Nelson L. S., Li, C. K., Law, L. K., To, K. F., Yau, Phyllis, Fung, Simon L. M., Chong, Josephine S. C., Tsung, Lilian, Chiang, Grace, Fung, Eva, Cheung, K. L., Yeung, W. L., Fok,

Journal:

Year:

2014

Language:

english

File:

PDF, 299 KB

english, 2014

27

Grading of Acute and Chronic Renal Lesions in Henoch-Schönlein Purpura

Szeto, Cheuk Chun, Choi, Paul C.L., To, Ka Fai, Li, Philip K.T., Hui, Joannie, Chow, Kai Ming, Leung, C.B., Lui, Siu Fai, Mac-Moune Lai, Fernand

Journal:

Modern Pathology

Year:

2001

Language:

english

File:

PDF, 1004 KB

english, 2001

28

Wilson’s disease: a review of treatment options with a focus on zinc therapy

Hui, Joannie, Tang,

Journal:

Orphan Drugs Research and Reviews

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

29

Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson disease

Tang, Nelson Leung-sang, Hui, Joannie, Huang, Dan, Tang, Man Fung, Wang, Xingyan, Wu, Junyi, Chan, Iris H.S., Leung, Ting Fan

Journal:

Year:

2020

File:

PDF, 1.29 MB

2020