Publications by authors named "Yuet Ping Yuen"

Claim this Profile
C
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Alina Ivaniuk, Irina A Anselm, Aaron Bowen, Bruce H Cohen, Fatma Tuba Eminoglu, Yuen-Ni Mew, Yuet-Ping Liz Yuen, Chi-Lap Yuen

Neurology· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Tsz-Sum Wong, Kiran M Belaramani, Chun-Kong Chan, Wing-Ki Chan, Wai-Lun Larry Chan, Yuen-Ni Mew, Yuet-Ping Liz Yuen, Chi-Lap Yuen

Orphanet J Rare Dis· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.
Han Wang, Kathy Yuen Yee Chan, Chi Keung Cheng, Margaret H L Ng, Po Yi Lee, Yuet Ping Yuen, Patrick Man Pan Yuen

Blood Cancer Discov· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Report: Novel Biallelic Variants in the Gene in a Chinese Family With Knobloch Syndrome.
Shuk Ching Chong, Yuet-Ping Yuen, Ye Cao, Sze-Shing Fan, Tak Yeung Leung

Front Neurol· May 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.
Nike Kwai Cheung Lau, Hencher Han Chih Lee, Sammy Pak Lam Chen, Candy Wai Yan Ng, Chloe Miu Mak, Yuet Ping Yuen

Pathology· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Ingrid E Scheffer, Katja E Boysen, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Yuet-Ping Yuen

Dev Med Child Neurol· September 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by mutation.
Felix Chi Kin Wong, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Yuet Ping Yuen

F1000Res· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adverse Effects of Azathioprine in a Child and Her Mother with Eczema.
Kam Lun Hon, Mimi Chang, Shuk Ching Chong, Yuet Ping Yuen, Stephen Kwok Wing Tsui

Indian J Pediatr· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
Miao Hu, Yuet-Ping Yuen, Jeffrey Ss Kwok, James F Griffith, Brian Tomlinson

J Atheroscler Thromb· June 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
Ching-Wan Lam, Chun-Yiu Law, Ka-Fei Leung, Chi-Kong Lai, Sammy Pak-lam Chen, Yuet-ping Yuen

Clin Chim Acta· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Online Diagnosis System: a webserver for analysis of Sanger sequencing-based genetic testing data.
Kun Sun, Yuet-Ping Yuen, Huating Wang, Hao Sun

Methods· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The first report of a Chinese family with McLeod syndrome.
Bik Ling Man, Yuet Ping Yuen, Yat Pang Fu

BMJ Case Rep· June 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
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, Grace Chiang, Patrick M P Yuen

World J Pediatr· November 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
Jeffrey Sung-Shing Kwok, Chi Lap Yuen, Lap Kay Law, Nelson Leung-Sang Tang, Sharon Wan-Wah Cherk, Yuet Ping Yuen

Pathology· April 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.
Han-Chih Hencher Lee, Chi-Kong Lai, Kin-Cheong Eric Yau, Tak-Shing Siu, Chloe Miu Mak, Yuet-Ping Yuen

Clin Chim Acta· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Chloe Miu Mak, Ching-wan Lam, Nai-chung Fong, Wai-kwan Siu, Han-chih Hencher Lee, Yuet-ping Yuen

J Hum Genet· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.
Han-Chih Hencher Lee, Chloe Miu Mak, Ching-Wan Lam, Yuet-Ping Yuen, Angel On-Kei Chan

Chin Med J (Engl)· April 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular basis of von Hippel-Lindau syndrome in Chinese patients.
Wai-Kwan Siu, Ronald Ching-Wan Ma, Ching-Wan Lam, Chloe Miu Mak, Yuet-Ping Yuen

Chin Med J (Engl)· January 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.
Han-Chih Hencher Lee, Chi-Kong Lai, Tak-Shing Siu, Yuet-Ping Yuen, Kwok-Yin Chan

Diagn Mol Pathol· September 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maternally inherited Leigh syndrome: an unusual cause of infantile apnea.
Christy Shuk-kuen Chau, Ka-li Kwok, Daniel K Ng, Ching-Wan Lam, Sui-Fan Tong, Yuet-Ping Yuen

Sleep Breath· June 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
WITHDRAWN: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.
Yuet-Ping Yuen, Wai-Fun Cheng, Sui-Fan Tong, Yuk-Tat Chan, Yan-Wo Chan

Mol Genet Metab· March 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
Yuet-Ping Yuen, Chi-Kong Lai, Yan-Wo Chan, Ching-Wan Lam, Sui-Fan Tong

Clin Chim Acta· January 2007

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia.
Ching-Wan Lam, Anna Wai-Fun Cheng, Wing-Tat Poon, Yuet-Ping Yuen, Kwai-Fun Huen

Clin Chim Acta· December 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome.
Ching-Wan Lam, Yuet-Ping Yuen, Wai-Fun Cheng, Yan-Wo Chan, Sui-Fan Tong

Clin Chim Acta· February 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.
Angel On-Kei Chan, Ching-Wan Lam, Sui-Fan Tong, Cheng Man Tung, Kwok Yung, Yuet-Ping Yuen

Clin Chim Acta· January 2005

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis