Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)
Parajes, Silvia, Chan, Angel OK, But, W M, Rose, Ian T, Taylor, Angela E, Dhir, Vivek, Arlt, Wiebke, Krone, Nils
Published in European journal of endocrinology (01.12.2012)
Published in European journal of endocrinology (01.12.2012)
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Journal Article
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
Mak, C M, Law, E Cy, Lee, H Hc, Siu, W K, Chow, K M, Au Yeung, S Kc, Ngan, H Ys, Tse, N Kc, Kwong, N S, Chan, G Cf, Lee, K W, Chan, W P, Wong, S F, Tang, M Hy, Kan, A Sy, Hui, A Pw, So, P L, Shek, C C, Lee, R Sy, Wong, K Y, Yau, E Kc, Poon, K H, Siu, S, Poon, G Wk, Kwok, A Mk, Ng, J Wy, Yim, V Cs, Ma, G Gy, Chu, C H, Tong, T Y, Chong, Y K, Chen, S Pl, Ching, C K, Chan, A Ok, Tam, S, Lau, R Lk, Ng, W F, Lee, K C, Chan, A Yw, Lam, C W
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2018)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2018)
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Journal Article
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Chan, Sophelia HS, Ho, Ronnie SL, Khong, PL, Chung, Brian HY, Tsang, Mandy HY, Yu, Mullin HC, Yeung, Matthew CW, Chan, Angel OK, Fung, CW
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Journal Article
The first case series of Chinese patients in Hong Kong with familial Alzheimer's disease compared with those with biomarker-confirmed sporadic late-onset Alzheimer's disease
Shea, Y F, Chu, L W, Lee, S C, Chan, A Ok
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2017)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2017)
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Journal Article
A common PRRT2
Law, CY, Yeung, W L, Cheung, Y F, Chan, H F, Fung, Eva, Hui, Joannie, Yung, Iris OK, Yuen, Y P, Chan, Angel OK, Lam, C W
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2016)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2016)
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Journal Article
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population
Chan, Angel O K, But, W M, Lee, C Y, Lam, Y Y, Ng, K L, Loung, P Y, Lam, Aimen, Cheng, C W, Shek, C C, Wong, W S, Wong, K F, Wong, M Y, Tse, W Y
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2015)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2015)
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Journal Article
A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients
Law, C Y, Yeung, W L, Cheung, Y F, Chan, H F, Fung, E, Hui, J, Yung, I Ok, Yuen, Y P, Chan, A Ok, Lam, C W
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2016)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2016)
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Journal Article
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene
Hui, Elaine, Yeung, Matthew Cw, Cheung, Pik To, Kwan, Elaine, Low, Louis, Tan, Kathryn Cb, Lam, Karen Sl, Chan, Angel Ok
Published in BMC endocrine disorders (03.04.2014)
Published in BMC endocrine disorders (03.04.2014)
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Journal Article
Hypertriglyceridaemia-induced pancreatitis: a contributory role of capecitabine?
Chan, H Y, Ng, C M, Tiu, S C, Chan, Angel O K, Shek, C C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2012)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2012)
Journal Article
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome
Lee, K F, Chan, Angel O K, Fok, Juliana M C, Mak, Maria W H, Yu, K C, Lee, K M, Shek, C C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2013)
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.06.2013)
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Journal Article
Use of urinary steroid profiling for diagnosing and monitoring adrenocortical tumours
Tiu, S C, Chan, Angel O K, Taylor, Norman F, Lee, C Y, Loung, P Y, Choi, C H, Shek, C C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2009)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.12.2009)
Journal Article
Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation
Ng, Y W, Chan, Angel O K, Au Yeung, Y T, Lau, Gene T C, Cheng, C W, Shek, C C, Tiu, S C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2011)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.10.2011)
Journal Article
Diagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Chan, Angel OK, But, WM, Lee, CY, Lam, YY, Ng, KL, Tung, Joanna, Cheung, PT, Chan, Doris, Tse, WY, Shek, CC
Published in International journal of pediatric endocrinology (03.10.2013)
Published in International journal of pediatric endocrinology (03.10.2013)
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Journal Article
A rare cause of nephrotic syndrome: lipoprotein glomerulopathy
Cheung, C Y, Chan, Angel O K, Chan, Y H, Lee, K C, Chan, Gordon P T, Lau, Gene T C, Shek, C C, Chau, K F, Li, C S
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2009)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2009)
Journal Article
Diagnosis of 5alpha-reductase 2 deficiency: a local experience
Chan, Angel O K, But, Betty W M, Lau, Gene T C, Lam, Almen L N, Ng, K L, Lam, Y Y, Lee, C Y, Shek, C C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.04.2009)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.04.2009)
Journal Article
Cryoglobulinaemia: clinical and laboratory perspectives
Chan, Angel O K, Lau, June S M, Chan, C H, Shek, C C
Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2008)
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Published in Hong Kong medical journal = Xianggang yi xue za zhi (01.02.2008)
Journal Article
Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Chan, Sophelia Hs, Ho, Ronnie Sl, Khong, P L, Chung, Brian Hy, Tsang, Mandy Hy, Yu, Mullin Hc, Yeung, Matthew Cw, Chan, Angel Ok, Fung, C W
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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