Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Autor: Belaramani KM; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Chan TCH; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Hau EWL; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, China., Yeung MCW; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Kwok AMK; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Lo IFM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, China., Law THF; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Wu H; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Wong SSN; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Lam SW; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Ha GHY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Lau TPY; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Wong TK; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Or VWC; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Wong RMS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Ming WL; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China., Chow JCK; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, China., Yau EKC; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China., Fu A; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China., Chong JSC; Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China., Yau HC; Department of Paediatrics, Prince of Wales Hospital, Hong Kong, China., Poon GWK; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China., Ng KL; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China., Chan KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, China., Lam YY; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, China., Hui J; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China., Mak CM; Newborn Screening Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China., Fung CW; Metabolic Medicine Unit, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Mar 11; Vol. 10 (1). Date of Electronic Publication: 2024 Mar 11.

Review on the screening of urine glucose for early diagnosis of type 2 diabetes mellitus in school children and adolescents with obesity in Hong Kong.

Autor: Pang GS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, P.R. China.; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, P.R. China., Chung TW; Student Health Service, Department of Health, Hong Kong, P.R. China., Choy HH; Student Health Service, Department of Health, Hong Kong, P.R. China., Lee CY; Department of Paediatrics, Caritas Medical Centre, Hong Kong, P.R. China., Tung JY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, P.R. China.; Department of Paediatrics and Adolescent medicine, Queen Mary Hospital, Hong Kong, P.R. China., Fu AC; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, P.R. China., Tsang JW; Department of Paediatrics, Prince of Wales Hospital, Hong Kong, P.R. China., Yau HC; Department of Paediatrics, Prince of Wales Hospital, Hong Kong, P.R. China., Belaramani KM; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, P.R. China., Wong LM; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, P.R. China., But BW; Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, P.R. China., Chow JC; Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, P.R. China., Wong SM; Department of Paediatrics, Queen Elizabeth Hospital, Hong Kong, P.R. China., Cheung PC; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, P.R. China., Lo PW; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, P.R. China., Ng KL; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, P.R. China., Poon SW; Department of Paediatrics and Adolescent medicine, Queen Mary Hospital, Hong Kong, P.R. China., Chan KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, P.R. China., Chan AM; Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, P.R. China., Wong SW; Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, P.R. China., Tay MK; Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong, P.R. China., Chung YK; Department of Paediatrics, Caritas Medical Centre, Hong Kong, P.R. China., Lam YY; Department of Paediatrics, Kwong Wah Hospital, Hong Kong, P.R. China., Kwan EY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, P.R. China.; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, P.R. China.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2024 Jan 29; Vol. 37 (2), pp. 130-136. Date of Electronic Publication: 2024 Jan 29 (Print Publication: 2024).

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.

Autor: Wong TS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Belaramani KM; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Chan CK; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Chan WK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Chan WL; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, SAR, People's Republic of China., Chang SK; Department of Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Cheung SN; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Cheung KY; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Cheung YF; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Chong SJ; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, People's Republic of China., Chow CJ; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Chung HB; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.; Hong Kong Genome Institute, Hong Kong, SAR, People's Republic of China., Fan SF; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Fok WJ; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Fong KW; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Fung TS; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Hui KF; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Hui TH; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Hui J; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Ko CH; Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Kwan MC; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Kwok MA; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Kwok SJ; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Lai MS; Department of Medicine, North District Hospital, Hong Kong, SAR, People's Republic of China., Lam YO; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Lam CW; Department of Pathology, The University of Hong Kong, Hong Kong, SAR, People's Republic of China., Lau MC; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Law CE; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Lee WC; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Lee HH; Department of Chemical Pathology, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Lee CN; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Leung KH; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Leung KY; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Li SH; Department of Medicine, North District Hospital, Hong Kong, SAR, People's Republic of China., Ling TJ; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Liu KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Lo FM; Department of Health, Clinical Genetic Service, Hong Kong, SAR, People's Republic of China., Lui HT; Department of Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People's Republic of China., Luk CO; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Ma CK; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Ma K; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Ma KH; Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole hospital, Hong Kong, SAR, People's Republic of China., Mew YN; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Mo A; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Ng SF; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Poon WG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Rodenburg R; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre, Nijmegen, The Netherlands., Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Smeitink J; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre, Nijmegen, The Netherlands., Szeto CC; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Tai SM; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Tse CA; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Tsung LL; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Wong HJ; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Wong WW; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Wong KK; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Wong SS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Wong CV; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China., Wong WS; Department of Pathology, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Wong CF; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Wu SP; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Wu HJ; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Yau MM; Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People's Republic of China., Yau KE; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Yeung WL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Yeung HJ; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, SAR, People's Republic of China., Yip KE; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, SAR, People's Republic of China., Young PT; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, SAR, People's Republic of China., Yuan G; Department of Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Yuen YL; Department of Chemical Pathology, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Yuen CL; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, SAR, People's Republic of China., Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China. fcw1209m@hku.hk.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 02; Vol. 18 (1), pp. 43. Date of Electronic Publication: 2023 Mar 02.

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

Autor: Yim SW; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong., Chan TYC; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, Laichikok, Hong Kong., Belaramani KM; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong., Man SS; Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong., Wong FCK; Department of Chemical Pathology, Prince of Wales Hospital, Shatin, Hong Kong., Chen SPL; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, Laichikok, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Lee HHC; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, Laichikok, Hong Kong., Mak CM; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, Laichikok, Hong Kong., Ching CK; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, Laichikok, Hong Kong.

Publikováno v: F1000Research [F1000Res] 2019 Sep 02; Vol. 8, pp. 1566. Date of Electronic Publication: 2019 Sep 02 (Print Publication: 2019).