Showing results 5 to 11 of 11
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience Journal:Hong Kong Medical Journal | 2018 | ||
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis Journal:Hong Kong Medical Journal | 2014 | ||
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years Journal:Genetic Counseling | 2012 | ||
Inborn errors of metabolism and expanded newborn screening: review and update Journal:Critical Reviews in Clinical Laboratory Sciences | 2013 | ||
| 2010 | |||
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke Journal:Clinica Chimica Acta | 2015 | ||
Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome Journal:International Journal of Neuroscience | 2011 |