Showing results 6 to 11 of 11
< previous
Title | Author(s) | Issue Date | Views | |
---|---|---|---|---|
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis Journal:Hong Kong Medical Journal | 2014 | 78 | ||
In search of the diagnosis, and the patient: transient galactosemia demystified after 14 years Journal:Genetic Counseling | 2012 | 57 | ||
Inborn errors of metabolism and expanded newborn screening: review and update Journal:Critical Reviews in Clinical Laboratory Sciences | 2013 | 59 | ||
2010 | 149 | |||
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke Journal:Clinica Chimica Acta | 2015 | 211 | ||
Young-onset Parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome Journal:International Journal of Neuroscience | 2011 | 156 |