Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Angel Ok Chan"'
Autor:
Mullin Hc Yu, Angel Ok Chan, Pek-Lan Khong, Ronnie Sl Ho, Mandy Hy Tsang, Brian Hy Chung, Matthew Cw Yeung, Cheuk-Wing Fung, Sophelia Hs Chan
Publikováno v:
Neuromuscular Disorders. 30:47-53
Megaconial congenital muscular dystrophy (CMD) is a rare form of congenital muscular dystrophy attributed to an autosomal recessive CHKB mutation. We report two unrelated Chinese girls with Megaconial CMD who harbored the same novel homozygous CHKB m
Autor:
Ching-Wan Lam, Angel Ok Chan, WL Yeung, YF Cheung, Yuet-Ping Yuen, Eva Lai-Wah Fung, CY Law, HF Chan, Joannie Hui, Iris Ok Yung
Publikováno v:
Hong Kong Medical Journal. :619-622
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 23(6)
INTRODUCTION Patients with familial Alzheimer's disease are being increasingly reported in Hong Kong. The objectives of this study were to report the clinical features of these patients, and to compare them with those with biomarker-confirmed sporadi
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 19(3)
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, w
Autor:
Louis C K Low, Angel Ok Chan, Elaine Hui, Karen S.L. Lam, Kathryn Cb Tan, Pik To Cheung, Matthew C. W. Yeung, Elaine Kwan
Publikováno v:
BMC Endocrine Disorders
Background Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenit
Autor:
Angel Ok Chan, YY Lam, Doris Chan, CY Lee, WM But, Kwok Leung Ng, Joanna Tung, PT Cheung, C C Shek, WY Tse
Publikováno v:
International Journal of Pediatric Endocrinology
Publikováno v:
International Journal of Pediatric Endocrinology
Childhood adrenocortical carcinoma is rare and has poor prognosis. Histopathological examination often helps in differentiating between benign versus malignant adrenal tumors. However, the diagnostic accuracy of adrenal biopsies varies and could be a
Publikováno v:
International Journal of Pediatric Endocrinology. 2013, Vol. 2013 Issue Suppl 1, p1-1. 1p.
Autor:
Wong LM; Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, New Territories, Hong Kong, PR China. Imwong888@hotmail.com, Li CH, Chan OK, Shek CC, Kwong NS
Publikováno v:
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2011; Vol. 24 (3-4), pp. 193-6.