Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Chloe M, Mak"'
Publikováno v:
EJIFCC. 33(2)
Pediatric laboratory medicine is a unique practice serving a vulnerable group of patients including highly specialized testing aiming to detect and treat inherited conditions early to avoid adverse outcomes. Data on the actual impact of COVID-19 pand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6898c7e76101bb9590c056f1b43a74d4
https://pubmed.ncbi.nlm.nih.gov/36313903
https://pubmed.ncbi.nlm.nih.gov/36313903
Autor:
Kuerbanjiang Abuduxikuer, Annu Aggarwal, Achiya Zvi Amir, Rachel A. Annunziato, Egberto R. Barbosa, Ashish Bavdekar, Mohit Bhatt, Claudia A. Blindauer, Sabine Borchard, Peter C. Bull, Eduardo L.R. Cançado, Irene J. Chang, Francesca Chiappe, Paul A. Cobine, Iris C.J. Coenen, Diane Wilson Cox, Anna Członkowska, Helmut Denk, Anil Dhawan, Oleg Y. Dmitriev, Peter Ferenci, Luisa Frizziero, Moshe Frydman, Arnab Gupta, Si Houn Hahn, Zena Leah Harris, Wieland Hermann, Roderick H.J. Houwen, Dominik Huster, Raffaele Iorio, Irena Ivanova, Samuel Jayakanthan, Sunhee Jung, Stephen G. Kaler, Nanda Kerkar, Dorothy A. Kieffer, Richard Kirk, Eirini Kyrana, Carolin Lackner, Mauricio Latorre, Maria B. Lepori, Tomasz Litwin, Georgios Loudianos, Svetlana Lutsenko, Chloe M. Mak, Valentina Medici, Edoardo Midena, Tamir Miloh, Raffaele Parrozzani, Roman S. Polishchuk, Aurélia Poujois, Joël Poupon, Catherine Quindipan, Giusy Ranucci, Kunal Ray, Eve A. Roberts, Johanna Rommens, Mauro Rongioletti, Carl Rose, Philip Rosenthal, Christian Rupp, Thomas D. Schiano, Michael L. Schilsky, Eyal Shteyer, Palittiya Sintusek, Mariacristina Siotto, Piotr Socha, Marc Solioz, Rosanna Squitti, Norman L. Sussman, Stuart Tanner, Vanessa Torbenson, Rodrigo Troncoso, Ricardo Uauy, Bart van de Sluis, Katherine E. Vest, John M. Vierling, John M. Walshe, Jian-She Wang, Karl H. Weiss, France Woimant, Ling Yi, Cynthia Abou Zeid, Xinyu Zhu, Paula C. Zimbrean, Hans Zischka
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2ae5f5c3fcc83b136c2bcf9e18b2f0f
https://doi.org/10.1016/b978-0-12-810532-0.00051-3
https://doi.org/10.1016/b978-0-12-810532-0.00051-3
Autor:
Chui-Kwan Au, Chor-Kwan Ching, Kong Tse, Ching-Wan Lam, Hencher Han-Chih Lee, Ngai-Shan Kwong, Hon-Kit Lee, Chak-On Sham, Chun-Yiu Law, Wing-Tat Poon, Albert Yan-Wo Chan, Chi-Keung Wong, Chloe M Mak, Sammy Pak-Lam Chen, Sam Yeung, Wai-Kwan Siu
Publikováno v:
Journal of Clinical Pathology. 65:1141-1145
Aim Inborn errors of metabolism (IEM) are an unpopular and difficult subject and most clinicians are unfamiliar with them. Although chemical pathologists have a long-standing practice in advising test strategy and result interpretation especially fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d15741efb68059c2e11851acef31ad0
https://doi.org/10.1136/jclinpath-2012-200837
https://doi.org/10.1136/jclinpath-2012-200837
Publikováno v:
Journal of medical screening. 21(2)
Objectives To evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong. Setting Regional public hospitals in Hong Kong prov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e10eb65bb3a23dfb20dcf672f344dc9
https://pubmed.ncbi.nlm.nih.gov/24803483
https://pubmed.ncbi.nlm.nih.gov/24803483
Autor:
Kam-Ming Au, K Y Chan, H L Chow, Eric Kin-Cheong Yau, Chloe M Mak, Albert Y W Chan, Louis C. K. Ma, CK Ching, Y P Yuen
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 19(4)
We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of generalised clonic convulsion at day 19, and was found to have isolated and persistent hype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce7934861bc86653988e3ca751a11e16
https://pubmed.ncbi.nlm.nih.gov/23918514
https://pubmed.ncbi.nlm.nih.gov/23918514
Autor:
Chloe M, Mak, K Y, Chan, Eric K C, Yau, Sammy P L, Chen, W K, Siu, C Y, Law, C W, Lam, Albert Y W, Chan
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 17(6)
Epilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification. Severe my
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06d575dbedd49e38af88d611dee58923
https://pubmed.ncbi.nlm.nih.gov/22665698
https://pubmed.ncbi.nlm.nih.gov/22665698
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 15(4)
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the abs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::093f0205998848347bbc67334fde897c
https://pubmed.ncbi.nlm.nih.gov/19652243
https://pubmed.ncbi.nlm.nih.gov/19652243
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 15(3)
We report a case of hereditary spastic paraplegia. This 38-year-old Chinese man has had lower limb weakness and spasticity for 10 years. He has normal cognition, no sensory deficits, ataxia or cataracts. There is a strong family history of spastic pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d839cf6f4b3f50eaafb2de23a2ac6618
https://pubmed.ncbi.nlm.nih.gov/19494379
https://pubmed.ncbi.nlm.nih.gov/19494379