A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation

por Wong, Felix Chi Kin, Wong, Wai Sheung, Kwok, Jeffrey Sung Shing, Tsui, Teresa Kam Chi, Lau, Kam Piu, Chan, Michael Ho Ming, Yuen, Yuet Ping
Publicado 2019

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants

por Yim, Sau Wing, Chan, Tina Yee Ching, Belaramani, Kiran M., Man, Sze Shun, Wong, Felix Chi Kin, Chen, Sammy Pak Lam, Lee, Hencher Han Chih, Mak, Chloe Miu, Ching, Chor Kwan
Publicado 2019