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Yuet‐Ping Yuen

Observed names: Yuet-Ping Liz Yuen, Yuet-Ping Yuen, Yuet-ping Liz Yuen, Yuet-ping Yuen, YuetPing Yuen
Observed institutions: Chinese University of Hong Kong, Tuen Mun Hospital, Yan Chai Hospital, Princess Margaret Cancer Centre, Prince of Wales Hospital, Prince of Wales Hospital, Princess Margaret Hospital, Princess Margaret Hospital, Princess Margaret Hospital, Hong Kong Children's Hospital
ORCID: 0000-0001-7700-8789
Observed ORCID: 0000-0001-7700-8789
OpenAlex ID: A5114033771
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants
2011 · Chloe Miu Mak, Ching-wan Lam, et al. · Journal of Human Genetics · 38
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
2005 · Ching-Wan Lam, Yuet-Ping Yuen, et al. · Clinica Chimica Acta · 30
BRAT 1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
2019 · Ingrid E Scheffer, Katja E Boysen, et al. · Developmental Medicine & Child Neurology · 23
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
2001 · Ching-Wan Lam, Yuet-Ping Yuen, et al. · American Journal of Kidney Diseases · 23
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
2011 · Han-Chih Hencher Lee, Chi-Kong Lai, et al. · Clinica Chimica Acta · 22
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
2004 · Yuet-Ping Yuen, Chi-Kong Lai, et al. · Journal of Nephrology · 20
DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography
2002 · Ching-Wan Lam, Chi-Keung Li, et al. · Molecular Genetics and Metabolism · 20
Potential Effects of NPC1L1 Polymorphisms in Protecting against Clinical Disease in a Chinese Family with Sitosterolaemia
2014 · Miao Hu, Yuet-Ping Yuen, et al. · Journal of Atherosclerosis and Thrombosis · 15
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Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death.
2003 · Ching-Wan Lam, Chi-Kong Lai, et al. · PubMed · 14
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
2023 · Tsz-sum Wong, Kiran M. Belaramani, et al. · Orphanet Journal of Rare Diseases · 13
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Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b
2002 · Yuet-Ping Yuen, Wai-Fun Cheng, et al. · Molecular Genetics and Metabolism · 12
Role of Postmortem Genetic Testing Demonstrated in a Case of Glutaric Aciduria Type II
2010 · Han-Chih Hencher Lee, Chi-Kong Lai, et al. · Diagnostic Molecular Pathology · 11
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
2004 · Angel On-Kei Chan, Ching-Wan Lam, et al. · Clinica Chimica Acta · 11
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay
2006 · Yuet-Ping Yuen, Ching-Wan Lam, et al. · Clinica Chimica Acta · 10
Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children
2013 · Joannie Hui, Yuet-Ping Yuen, et al. · World Journal of Pediatrics · 8
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea
2009 · Christy Shuk-kuen Chau, Ka-li Kwok, et al. · Sleep And Breathing · 8
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders
2025 · Alina Ivaniuk, Irina A. Anselm, et al. · Neurology · 7
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NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome
2014 · Ching-Wan Lam, Chun-Yiu Law, et al. · Clinica Chimica Acta · 6
Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography
2001 · Ching-Wan Lam, Ka-Ning Hui, et al. · Clinica Chimica Acta · 6
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome
2022 · Shuk Ching Chong, Yuet-Ping Yuen, et al. · Frontiers in Neurology · 5
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The Online Diagnosis System for sanger sequencing based genetic testing
2014 · Kun Sun, Yuet-Ping Yuen, et al. · International Conference on Big Data and Smart Computing · 3
Online Diagnosis System: A webserver for analysis of Sanger sequencing-based genetic testing data
2014 · Kun Sun, Yuet-Ping Yuen, et al. · Methods · 2
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia
2006 · Ching-Wan Lam, Anna Wai-Fun Cheng, et al. · Clinica Chimica Acta · 2
Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape
2022 · Tsz-sum Wong, Kiran M Belaramani, et al. · Research Square
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Nephropathic cystinosis: A cause of renal fanconi syndrome
2020 · Euan Soo, EugeneYu-Hin Chan, et al. · Asian Journal of Pediatric Nephrology
Works count: 26
Citation count: 309
H-index: 11
I10-index: 14
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