Article
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Pathology - 1 Aug 2014
Hui Joannie, Tang Nelson L S, Li C K, Law L K, To K F, Yau Phyllis, Fung Simon L M, Chong Josephine S C, Tsung Lilian, Chiang Grace, Fung Eva, Cheung K L, Yeung W L, Fok T F
Abstract excerpt
Inherited metabolic diseases (IMDs) are a large group of rare genetic diseases. The spectrum and incidences of IMDs differ among populations, which has been well characterised in Caucasians but much less so in Chinese. In a setting of a University Hospital Metabolic Clinic in Hong Kong, over 100 patients with IMDs have been seen during a period of 13 years (from 1997 to 2010). The data were used to define the...
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