Publications by authors named "Cheuk Wing Fung"

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Kidney transplantation in mitochondrial diseases: a systematic review.
Sze Wa Wong, Cheuk Wing Fung, Fred Tomlin, Jelena Stojanovic

Pediatr Nephrol· November 2025

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Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases.
Tsz Sum Wong, Emily Man, Ian Chi Kei Wong, Shirley Xue Li, Hui Zhi, Chi Fung Godfrey Chan, Cheuk Wing Fung

Orphanet J Rare Dis· June 2025

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Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment.
Jesse Zhen Cheng Lee, Chit Kwong Chow, Cheuk-Wing Fung, Stephen Tak Yau Lui, Suet-Na Sheila Wong

Mol Genet Metab Rep· June 2025

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An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Cheuk-Wing Fung

NPJ Genom Med· May 2025

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Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.
Kyle Ying-Kit Lin, Ching-Wan Lam, Eugene Yu-Hin Chan, Mianne Lee, Brian Hon-Yin Chung, Cheuk-Wing Fung

Pediatr Nephrol· February 2025

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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, Fung Cheuk-Wing, Tsz-Fung Cheung, Tsui-Hang Sharon Fung, Hiu-Fung Law, Hiu-Fung Jerome Wu

Neurology· February 2025

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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C P Chan, Cheuk Wing Fung, Eva Lai Wah Fung, Herbert Ho Fung Loong

Lancet Reg Health West Pac· February 2025

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DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.
Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Cheuk Wing Fung

Int J Neonatal Screen· November 2024

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"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture.
Olivia Miu Yung Ngan, Cheuk Wing Fung, Mei Kwun Kwok, Eric Kin Cheong Yau, Shing Yan Robert Lee

BMC Public Health· October 2024

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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horvath, Cheuk-Wing Fung

J Inherit Metab Dis· May 2024

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Cheuk-Wing Fung

Mol Genet Metab Rep· March 2024

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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Cheuk Wing Fung

Int J Neonatal Screen· March 2024

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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Terry Hiu Fung Law, Cheuk Wing Fung

Int J Neonatal Screen· March 2024

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Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case study.
Frances Kam Yuet Wong, Jacqueline Mei Chi Ho, Tsz Chui Lai, Lilian Po Yee Lee, Eva Ka Yan Ho, Cheuk Wing Fung

Arch Dis Child· January 2024

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Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.
Kiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, Shing Yan Robert Lee, Eric Kin Cheong Yau

Int J Neonatal Screen· August 2023

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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, Tsui-Hang Sharon Fung, Hiu-Fung Jerome Wu, Cheuk-Wing Fung

Orphanet J Rare Dis· March 2023

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Neuroimaging in Primary Coenzyme-Q-Deficiency Disorders.
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H-Y Chung

Antioxidants (Basel)· March 2023

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Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.
Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso, Cheuk Wing Fung

Orphanet J Rare Dis· September 2022

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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug.
Janet Ling, Wai Lan Yeung, Kam Lun Hon, Ivan F M Lo, Ho-Ming Luk, Cheuk Wing Fung

Case Rep Pediatr· May 2022

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Clinical Characteristics and Outcomes of Acute Childhood Encephalopathy in a Tertiary Pediatric Intensive Care Unit.
Wun Fung Hui, Karen Ka Yan Leung, Cheuk Chung Au, Cheuk Wing Fung, Frankie W T Cheng

Pediatr Emerg Care· March 2022

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High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Anna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong, Vanessa Loi-Yan Chu, Saskia Koene, Cheuk-Wing Fung

Epilepsia Open· December 2021

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Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Cheuk-Wing Fung

J Inherit Metab Dis· November 2021

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Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
Tsz-Ki Ling, Ka-Chung Wong, Candace Yim Chan, Nike Kwai-Cheung Lau, Chun-Yiu Law, Cheuk-Wing Fung

Clin Chim Acta· October 2021

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Human d-lactate dehydrogenase deficiency by mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
Anna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk-Wing Fung

JIMD Rep· July 2021

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Mianne Lee, Cheuk Wing Fung

Lancet Reg Health West Pac· August 2020

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