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DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillionLam, CW; Yan, MSC; Li, CK; Lau, KC; Tong, SF; Tang, HY200784
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2Lam, CW; Cheung, KM; Tsui, MS; Yan, MSC; Lee, CY; Tong, SF200697
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1bLam, CW; Orrico, A; Yan, MSC; Law, TY; Galli, L; Benedetti, A; Tong, SF; Sorrentino, V200673
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