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Yau, Kin-Cheong Eric
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1

Urine organic acid as the first clue towards aromatic L-ami..:

Ling, Tsz-Ki ; Wong, Ka-Chung ; Chan, Candace Yim...
Clinica Chimica Acta.  521 (2021)  - p. 40-44 , 2021
Link: https://doi.org/10.1016/..
 
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2

Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of..:

Lee, Han-Chih Hencher ; Wong, Shun ; Leung, Frank Ying-Kit...
Journal of Neuropathology & Experimental Neurology.  78 (2019)  9 - p. 854-864 , 2019
Link: https://doi.org/10.1093/..
 
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3

NMR-based urinalysis for beta-ketothiolase deficiency:

Law, Chun-Yiu ; Lam, Ching-Wan ; Ching, Chor-kwan...
Clinica Chimica Acta.  438 (2015)  - p. 222-225 , 2015
Link: https://doi.org/10.1016/..
 
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4

Non-invasive urinary screening for aromatic l-amino acid de..:

Lee, Han-Chih Hencher ; Lai, Chi-Kong ; Yau, Kin-Cheong Eric...
Clinica Chimica Acta.  413 (2012)  1-2 - p. 126-130 , 2012
Link: https://doi.org/10.1016/..
 
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5

Expanded Newborn Screening for Inborn Errors of Metabolism ..:

Belaramani, Kiran Moti ; Chan, Toby Chun Hei ; Hau, Edgar Wai Lok...
International Journal of Neonatal Screening.  10 (2024)  1 - p. 23 , 2024
Link: https://doi.org/10.3390/..
 
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6

Public and Healthcare Provider Receptivity toward the Reten..:

Belaramani, Kiran Moti ; Fung, Cheuk Wing ; Kwok, Anne Mei Kwun...
International Journal of Neonatal Screening.  9 (2023)  3 - p. 45 , 2023
Link: https://doi.org/10.3390/..
 
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7

Guillain-Barré syndrome in children – High occurrence of Mi..:

Chiu, Annie Ting Gee ; Chan, Ricky Wing Ki ; Yau, Maggie Lo Yee...
Brain and Development.  44 (2022)  10 - p. 715-724 , 2022
Link: https://doi.org/10.1016/..
 
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8

Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-S..:

Gloria Pang, Shir Wey ; Chih Lee, Hencher Han ; Ng Wing kei, Carol...
Case Reports in Genetics.  2022 (2022)  - p. 1-8 , 2022
Link: https://doi.org/10.1155/..
 
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9

Movement disorders associated with thiamine pyrophosphokina..:

Au, Lisa Wing Chi ; Lee, Hencher Han Chih ; Sheng, Bun...
Clinical Neurology and Neurosurgery.  199 (2020)  - p. 106258 , 2020
Link: https://doi.org/10.1016/..
 
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10

Improvement of bone mineral density after enzyme replacemen..:

Sheng, Bun ; Chu, Yim Pui ; Wong, Wa Tai...
BMC Research Notes.  10 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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11

Exome sequencing in paediatric patients with movement disor..:

Kwong, Anna Ka-Yee ; Tsang, Mandy Ho-Yin ; Fung, Jasmine Lee-Fong...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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12

X-chromosome inactivation and PCDH19-associated epileptic e..:

Hung, Ling-Yin ; Subramaniam, Shreenidhi Ranganatha ; Tong, Tsz-Yan Tammy...
Clinica Chimica Acta.  521 (2021)  - p. 285-288 , 2021
Link: https://doi.org/10.1016/..
 
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13

Anti-N-methyl-d-aspartate receptor encephalitis in children..:

Ho, Alvin Chi-chung ; Chan, Sophelia Hoi-shan ; Chan, Eric...
Brain and Development.  40 (2018)  6 - p. 473-479 , 2018
Link: https://doi.org/10.1016/..
 
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14

Clinical whole-exome sequencing reveals a novel missense pa..:

Law, Chun-Yiu ; Chang, Sharon Tzu-Lun ; Cho, Sun Young...
Clinica Chimica Acta.  451 (2015)  - p. 292-296 , 2015
Link: https://doi.org/10.1016/..
 
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15

Mitochondrial diseases in Hong Kong: prevalence, clinical c..:

Wong, Tsz-sum ; Belaramani, Kiran M ; Chan, Chun-kong...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979401/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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