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Ending diagnostic odyssey using clinical whole-exome sequencing (CWES).

• Authors : Lam, Ching-Wan

Subjects: GENETIC disorder diagnosis; SEQUENCE analysis; GENETIC testingHONG Kong (China)

• Source: Journal of Laboratory Medicine; Dec2021, Vol. 45 Issue 6, p259-266, 8p

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Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.

• Authors : Lin KY; Paediatric Nephrology, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, China.; Lam CW

• Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Sep 03. Date of Electronic Publication: 2024 Sep 03.Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

• Authors : Law CY; Department of Pathology, Queen Mary Hospital, Hong Kong SAR, China.; Lui DTW

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 564, pp. 119924. Date of Electronic Publication: 2024 Aug 15.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Computer-assisted patient identification tool in inborn errors of metabolism - potential for rare disease patient registry and big data analysis.

• Authors : Mak CM; Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong SAR, China. Electronic address: .; Woo PPS

Subjects: Registries* ; Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Big Data*

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Jul 15; Vol. 561, pp. 119811. Date of Electronic Publication: 2024 Jun 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.

• Authors : Wong SS; Department of Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.; Yuen LY

• Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Nov 21; Vol. 38, pp. 101023. Date of Electronic Publication: 2023 Nov 21 (Print Publication: 2024).Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN:

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Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

• Authors : Yiu RS; Division of Chemical Pathology, Department of Pathology, Queen Mary Hospital, Hong Kong, China.; Ling TK

Subjects: Dystonia* ; Symporters*/Symporters*/Symporters*/genetics; Infant, Newborn Allan-Herndon-Dudley syndrome

• Source: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2023 Nov 01; Vol. 551, pp. 117621. Date of Electronic Publication: 2023 Nov 03.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A review of pulmonary neutrophilia and insights into the key role of neutrophils in particle-induced pathogenesis in the lung from animal studies of lunar dusts and other poorly soluble dust particles.

• Authors : Lam CW; Biomedical Research and Environmental Sciences Division, NASA Johnson Space Center, Houston, TX, USA.; Biomedical & Environmental Research Department, KBR Toxicology & Environmental Chemistry, Houston, TX, USA.

Subjects: Dust* ; Lung Diseases*; Cricetinae

• Source: Critical reviews in toxicology [Crit Rev Toxicol] 2023 Sep; Vol. 53 (8), pp. 441-479. Date of Electronic Publication: 2023 Nov 10.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8914275 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A curious case of early-onset dementia.

• Authors : Ip WCT; Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China.; Shea YF

Subjects: Dementia*/Dementia*/Dementia*/etiology; Humans

• Source: Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2023 Aug; Vol. 29 (4), pp. 359.e1-359.e3. Date of Electronic Publication: 2023 Jun 14.Publisher: Hong Kong Academy of Medicine Press Country of Publication: China NLM ID: 9512509 Publication Model: Print-Electronic Cited Medium: Internet

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Skewed inflammation is associated with aberrant interleukin-37 signaling pathway in atopic dermatitis.

• Authors : Hou T; Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.; Tsang MS

Subjects: Dermatitis, Atopic*; Humans ; Inflammation

• Source: Allergy [Allergy] 2021 Jul; Vol. 76 (7), pp. 2102-2114. Date of Electronic Publication: 2021 Mar 06.Publisher: Wiley-Blackwell Country of Publication: Denmark NLM ID: 7804028 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Pomiferin targets SERCA, mTOR, and P-gp to induce autophagic cell death in apoptosis-resistant cancer cells, and reverses the MDR phenotype in cisplatin-resistant tumors in vivo.

• Authors : Qu YQ; Dr. Neher's Biophysics Laboratory for Innovative Drug Discovery, State Key Laboratory of Quality Research in Chinese Medicine, Macau University of Science and Technology, Macau; Faculty of Medicine, Macau University of Science and Technology, Macau.

Subjects: Antineoplastic Agents*/Antineoplastic Agents*/Antineoplastic Agents*/pharmacology ; Antineoplastic Agents*/Antineoplastic Agents*/Antineoplastic Agents*/therapeutic use ; Autophagic Cell Death*

• Source: Pharmacological research [Pharmacol Res] 2023 May; Vol. 191, pp. 106769. Date of Electronic Publication: 2023 Apr 13.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8907422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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