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Orphanet Journal of Rare Diseases|December 12, 2012
COG5-CDG: expanding the clinical spectrumDaisy Rymen, Liesbeth Keldermans, Valérie Race, et al.
Pediatric Nephrology (Berlin, Germany)|September 3, 2024
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathyKyle Ying-Kit Lin, Ching-Wan Lam, Eugene Yu-Hin Chan, et al.
JIMD Reports|June 27, 2019
A fatal case of COQ7-associated primary coenzyme Q10 deficiencyAnna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
Journal of Child Neurology|September 9, 2010
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiencyWai-Lan Yeung, Virginia C N Wong, Kwok-Yin Chan, et al.
Pediatric Neurology|September 12, 2012
Arginase deficiency with new phenotype and a novel mutation: contemporary summaryJane Pui Ki Tsang, Wai Lun Poon, Ho Ming Luk, et al.
International Journal of Neonatal Screening|August 22, 2023
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong KongKiran Moti Belaramani, Cheuk Wing Fung, Anne Mei Kwun Kwok, et al.
NPJ Genomic Medicine|August 16, 2018
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odysseyChristopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, et al.
Parkinsonism & Related Disorders|January 24, 2019
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35Jasmine L F Fung, Mandy H Y Tsang, Gordon K C Leung, et al.
Annals of Neurology|May 31, 2017
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndromeDomitille Gras, Christelle Cousin, Caroline Kappeler, et al.
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