A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation [version 1; peer review: 1 approved, 2 approved with reservations]

by Felix Chi Kin Wong, Wai Sheung Wong, Jeffrey Sung Shing Kwok, Teresa Kam Chi Tsui, Kam Piu Lau, Michael Ho Ming Chan, Yuet Ping Yuen
Published 2019-09-01

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variants [version 1; peer review: 2 approved]

by Sau Wing Yim, Tina Yee Ching Chan, Kiran M. Belaramani, Sze Shun Man, Felix Chi Kin Wong, Sammy Pak Lam Chen, Hencher Han Chih Lee, Chloe Miu Mak, Chor Kwan Ching
Published 2019-09-01