Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Sammy Pak Lam Chen"'
Autor:
Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
Publikováno v:
Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract A three‐year‐old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare
Externí odkaz:
https://doaj.org/article/a0ac5c945e034849ab213862d513577a
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Objective Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacemen
Externí odkaz:
https://doaj.org/article/978307350d7f4440bf793c4f736885e6
Autor:
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
Publikováno v:
F1000Research, Vol 8 (2019)
Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevai
Externí odkaz:
https://doaj.org/article/00ac1c515c5148708a69f2ac99350c53
Autor:
Geoffrey Chek Fei Yu, Ming-kut Tay, Sammy Pak-lam Chen, Mei Tik Stella Leung, Joanna Yuet-ling Tung
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2023)
17α-hydroxylase deficiency (17α-OHD) is a rare form of congenital adrenal hyperplasia. We report the case of a teenage girl with 17α-OHD who presented with delayed puberty, hypergonadotropic hypogonadism and hypertension. We illustrate the clinica
Externí odkaz:
https://doaj.org/article/688785128ade49528d3b810904e9e1d9
Autor:
Y K Chong, Y P Yuen, Chloe Miu Mak, C C Shek, Candy Wai Yan Ng, Mei Tik Leung, Chor Kwan Ching, Sammy Pak-Lam Chen, Hencher Han Chih Lee, Nike Kwai Cheung Lau, Tammy Tsz Yan Tong
Publikováno v:
Pathology. 53:867-874
Citrin deficiency is one of the most common inborn errors of metabolism in East Asians, which may manifest as neonatal cholestasis, failure to thrive and dyslipidaemia, or recurrent hyperammonaemic encephalopathy. Its molecular diagnosis requires con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45e19601076d4c353c11a726dc5e727
https://doi.org/10.1016/j.pathol.2021.02.010
https://doi.org/10.1016/j.pathol.2021.02.010
Autor:
Cheuk Lik Wong, Matthew Tai Fai Kwan, Sammy Pak Lam Chen, Mei Tik Leung, Tim Wai Chan, Vicki Ho Kee Tam
Publikováno v:
Journal of the Endocrine Society. 6:A62-A62
Introduction Oncocytic adrenocortical carcinoma (OAC) is a rare, more indolent variant of adrenocortical carcinoma (ACC). With fewer than 70 cases reported in the English literature, the biological behavior and its response to treatment are poorly ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e601581db29814c6a10b66d64809d2b
https://doi.org/10.1210/jendso/bvac150.128
https://doi.org/10.1210/jendso/bvac150.128
Autor:
Sammy Pak Lam Chen, Daniel Cheuk Wa Leung, Chor Kwan Ching, Yat Ming Tsang, Chloe Mak, Toby Chun Hei Chan, Kristine Shik Luk
Publikováno v:
Journal of Clinical Pathology. 73:800-802
AimsTuberculous meningitis (TBM) is a severe infection which may lead to serious complication and mortality. Prompt diagnosis and treatment are essential. There is a need for a simple and fast laboratory test to differentiate TBM from other causes.Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::419843ac4c50933d99c728f4ea97ffc1
https://doi.org/10.1136/jclinpath-2019-206397
https://doi.org/10.1136/jclinpath-2019-206397
Autor:
Frank Ying-Kit Leung, Luen-Cheung Ho, Siu-Ki Timothy Chan, Tsui-Hang Sharon Fung, Hoi-Ki Cynthia Leung, Han-Chih Hencher Lee, Sammy Pak-Lam Chen, Kin-Cheong Eric Yau, Chloe Miu Mak, Shun Wong, Wai-Nang Yau, Kwok-Fan Kwan, Ka-Wah Li
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 78:854-864
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0edbacf9155e062810f819eefaaba4
https://doi.org/10.1093/jnen/nlz056
https://doi.org/10.1093/jnen/nlz056
Autor:
Yui-Shing Cheung, Hoi-Ning Cheung, Mei-Tik Leung, Sammy Pak-Lam Chen, Toby Chun Hei Chan, Wai-Hon Li, Assumpta Sze-Man Wong, Ling-Yin Hung, C C Shek
Publikováno v:
F1000Research
Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f8ab33f4a03ed297ba8f94176e90f
http://europepmc.org/articles/PMC8240598
http://europepmc.org/articles/PMC8240598
Autor:
Ling-Yin Hung, Mei-Tik Leung, Toby Chun-Hei Chan, Hoi-Ning Cheung, Wai-Hon Li, Yui-Shing Cheung, Assumpta Sze-Man Wong, Chi-Chung Shek, Sammy Pak-Lam Chen
Publikováno v:
F1000Research, Vol 10 (2021)
Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::e20d55f34c04244274ed34c92784119d
https://f1000research.com/articles/10-458/v1
https://f1000research.com/articles/10-458/v1