Výsledky vyhledávání - "Ka-chung Wong"

Akademický článek

Cushing’s syndrome caused by ACTH precursors secreted from a pancreatic yolk sac tumor in an adult—a case report and literature review

Autor: Johnny Yau Cheung Chang, Chariene Shao Lin Woo, Wing Sun Chow, Anne White, Ka Chung Wong, Po Tsui, Alan Chun Hong Lee, Eunice Ka Hong Leung, Yu Cho Woo, Kathryn Choon Beng Tan, Karen Siu Ling Lam, Chi Ho Lee, David Tak Wai Lui

Publikováno v: Frontiers in Medicine, Vol 10 (2023)

Here, we report the first adult case of pancreatic yolk sac tumor with ectopic adrenocorticotropic hormone (ACTH) syndrome. The patient was a 27-year-old woman presenting with abdominal distension, Cushingoid features, and hyperpigmentation. Endogeno

Externí odkaz: https://doaj.org/article/402c0cc4d8154c18af2bf39f4f24245d

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Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Autor: Yeow-Kuan Chong, Lai-Ka Lee, Tsz-ki Ling, Han-Chih Hencher Lee, Chun-Hung Ko, Candace Yim Chan, Ching-Wan Lam, Chloe Mak, Nike Kwai-Cheung Lau, Cheuk-Wing Fung, Sheila Suet-Na Wong, Sidney Tam, Chun-yiu Law, K M Cheung, Chi-Kong Lai, Kin-Cheong Eric Yau, Albert Y W Chan, Ka-chung Wong

Publikováno v: Clinica Chimica Acta. 521:40-44

Background Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc11642968b04a807262772013c3e60e
https://doi.org/10.1016/j.cca.2021.06.025

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Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Autor: Ka-lok Lee, Tsz-ki Ling, Winnie C.W. Chu, Gloria Brea-Calvo, Ching-Wan Lam, Kin-wing Yan, Chun-Yiu Law, Ka-chung Wong, Nai-Chung Fong

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
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[Background]: Primary CoQ deficiency occurs because of the defective biosynthesis of coenzyme Q, one of the key components of the mitochondrial electron transport chain. Patients with this disease present with a myriad of non-specific symptoms and si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abf985c3fe42f4f0117302b8d78bb44b
https://doi.org/10.1016/j.cca.2019.07.016

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Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Autor: Sik-Hon Tsui, Tsz-ki Ling, Ching-Lung Lai, Chun-yiu Law, SC Leung, Florence Loong, Nike Kwai-Cheung Lau, Ka-chung Wong, Ching-Wan Lam

Publikováno v: Clinical toxicology (Philadelphia, Pa.). 60(2)

Colloidal silver packaged as a dietary supplement is readily available online and is thought to be safe. Literature describing its toxicity in humans is scarce.A 47-year-old man presented to us for sensory and gait problems. He had unremarkable past

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32f6511d3450a03ee4f6eaa2d66f9f6b
https://pubmed.ncbi.nlm.nih.gov/34047646

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Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome

Autor: Ching-Wan Lam, Ka-Chung Wong, Candace Yim Chan, Sharon Tzu-Lun Chang

Publikováno v: Journal of human genetics. 66(8)

Hypomelanosis of Ito (HMI) is part of a neuroectodermal syndrome characterized by distinctive skin manifestations with or without multisystemic involvements. In our undiagnosed diseases program, we have encountered a 3-year-old girl presenting with c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b72d0ecb2f6bfc2ff36065a2a0a41c8
https://pubmed.ncbi.nlm.nih.gov/33526817

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Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

Autor: Tsz-ki Ling, Chun-yiu Law, Ching-Wan Lam, Ka-chung Wong, WL Yeung

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 496

Background Mitochondrial DNA depletion syndrome is a group of heterogeneous diseases with non-specific presentation. The common feature is the quantitative depletion of mitochondrial DNA without qualitative defects. Diagnosis of these diseases poses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c6010555bd6816b1c0eefa68498a04
https://pubmed.ncbi.nlm.nih.gov/31271740

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