Homozygous Y55X mutation in NPC 2 gene resulting in Niemann Pick Type C2 disease with early severe pulmonary involvement
Refereed conference paper presented and published in conference proceedings


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All Author(s) ListHUI Joannie, TO Ka Fai, LAW L. K. Eric, TANG Leung Sang Nelson
Name of ConferenceThe 1st Asian Congress for Inherited Metabolic Diseases
Country/Region of ConferenceJapan
Proceedings TitleThe 1st Asian Congress for Inherited Metabolic Diseases
Detailed descriptionorganized by Asian Congress for Inherited Metabolic Diseases,
Year2010
Month3
Place of PublicationJapan, Fukuoka
Pages99
LanguagesEnglish-United Kingdom

Last updated on 2018-18-01 at 22:50