A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach

por Yu, Geoffrey Chek Fei, Tay, Ming-kut, Chen, Sammy Pak-lam, Leung, Mei Tik Stella, Tung, Joanna Yuet-ling
Publicado 2023

Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

por Sheng, Bun, Chu, Yim Pui, Wong, Wa Tai, Yau, Eric Kin Cheong, Chen, Sammy Pak Lam, Luk, Wing Hang
Publicado 2017

Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inhe...

por Chan, Toby Chun Hei, Cheung, Hoi Ning, Chow, Jasmine, Leung, Mei Tik, Chen, Sammy Pak Lam, Shek, Chi Chung
Publicado 2022

ODP049 Oncocytic adrenocortical carcinoma misdiagnosed as renal oncocytoma and use of urinary steroid profiling in disease monitoring after mitotane therapy

por Wong, Cheuk Lik, Kwan, Matthew Tai Fai, Chen, Sammy Pak Lam, Leung, Mei Tik, Chan, Tim Wai, Tam, Vicki Ho Kee
Publicado 2022

Case Report: The first familial hCG syndrome in a Chinese family

por Hung, Ling-Yin, Leung, Mei-Tik, Chan, Toby Chun-Hei, Cheung, Hoi-Ning, Li, Wai-Hon, Cheung, Yui-Shing, Wong, Assumpta Sze-Man, Shek, Chi-Chung, Chen, Sammy Pak-Lam
Publicado 2021

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