Inborn errors of metabolism and expanded newborn screening: review and update CM Mak, HCH Lee, AYW Chan, CW Lam Critical reviews in clinical laboratory sciences 50 (6), 142-162, 2013 | 282 | 2013 |
Transient risk factors for acute traumatic hand injuries: a case-crossover study in Hong Kong CY Chow, H Lee, J Lau, ITS Yu Occupational and environmental medicine 64 (1), 47-52, 2007 | 82 | 2007 |
BAG3‐related myofibrillar myopathy in a Chinese family HC Lee, SW Cherk, SK Chan, S Wong, TW Tong, WS Ho, AY Chan, ... Clinical genetics 81 (4), 394-398, 2012 | 78 | 2012 |
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong HCH Lee, CM Mak, CW Lam, YP Yuen, AOK Chan, CC Shek, TS Siu, ... Chinese medical journal 124 (7), 983-989, 2011 | 62 | 2011 |
Adulteration of Proprietary Chinese Medicines and Health Products with Undeclared Drugs: Experience of a Tertiary Toxicology Laboratory in Hong Kong. CK Ching, SPL Chen, HHC Lee, YH Lam, SW Ng, ML Chen, MHY Tang, ... British journal of clinical pharmacology, 2017 | 53 | 2017 |
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants CM Mak, C Lam, N Fong, W Siu, HH Lee, T Siu, C Lai, C Law, S Tong, ... Journal of human genetics 56 (8), 617-621, 2011 | 44 | 2011 |
Dietary sugars: Chemistry, analysis, function and effects VR Preedy Royal Society of Chemistry, 2012 | 38* | 2012 |
Outbreak of hypoglycaemia: sexual enhancement products containing oral hypoglycaemic agent WT Poon, YH Lam, HH Lee, CK Ching, WT Chan, SS Chan, CK Lai, ... Hong Kong Med J 15 (3), 196-200, 2009 | 35 | 2009 |
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study HCH Lee, CK Lai, KCE Yau, TS Siu, CM Mak, YP Yuen, KY Chan, S Tam, ... Clinica Chimica Acta 413 (1), 126-130, 2012 | 33 | 2012 |
Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical … CM Mak, NS Mok, HC Shum, WK Siu, YK Chong, HHC Lee, NC Fong, ... Hong Kong Med J 25 (1), 21-9, 2019 | 29 | 2019 |
2, 4-Dinitrophenol: A threat to Chinese body-conscious groups HCH Lee, CY Law, ML Chen, YH Lam, AYW Chan, TWL Mak Journal of the Chinese Medical Association 77 (8), 443-445, 2014 | 24 | 2014 |
Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome CM Mak, B Sheng, HH Lee, K Lau, W Chan, C Lam, Y Chan International Journal of Neuroscience 121 (4), 224-227, 2011 | 22 | 2011 |
The co-occurrence of serologically proven myasthenia gravis and Miller Fisher/Guillain Barré overlap syndrome—A case report KK Lau, KJ Goh, HCH Lee, YTE Chan, CT Tan Journal of the neurological sciences 276 (1), 187-188, 2009 | 22 | 2009 |
The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong. CM Mak, EC Law, HH Lee, WK Siu, KM Chow, SKY Au, HY Ngan, NK Tse, ... Hong Kong medical journal= Xianggang yi xue za zhi 24 (3), 226-237, 2018 | 21 | 2018 |
Clinical manifestation of late onset Pompe disease patients in Hong Kong YP Chu, B Sheng, KK Lau, HF Chan, GYW Kam, HHC Lee, CM Mak Neuromuscular Disorders 26 (12), 873-879, 2016 | 21 | 2016 |
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese CM Mak, CW Lam, TS Siu, KY Chan, WK Siu, WL Yeung, J Hui, ... Molecular genetics and metabolism 99 (4), 431-433, 2010 | 21 | 2010 |
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II HCH Lee, CK Lai, TS Siu, YP Yuen, KY Chan, AYW Chan, S Tam, ... Diagnostic Molecular Pathology 19 (3), 184-186, 2010 | 19 | 2010 |
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis HH Lee, KH Poon, CK Lai, KM Au, TS Siu, JP Lai, CM Mak, YP Yuen, ... Hong Kong Med J 20 (1), 63-66, 2014 | 17 | 2014 |
Serotonin syndrome following overdose of a non-prescription slimming product containing sibutramine: A case report PK Lam, KS Leung, TW Wong, HHC Lee, MHY Tang, TWL Mak Human & experimental toxicology 31 (4), 414-417, 2012 | 16 | 2012 |
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia HHC Lee, RSY Lee, CK Lai, YP Yuen, TS Siu, AYW Chan, CW Lam Hong Kong Medical Journal 16 (3), 219-222, 2010 | 15 | 2010 |