Zobrazeno 1 - 10 of 170 pro vyhledávání: '"Christopher M, Florkowski"'
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Vitamin D supplementation in pregnancy: A word of caution. Familial hypercalcaemia due to disordered vitamin D metabolism
Autor: Ian Phillips, Glenville Jones, Christopher M. Florkowski, Penny J. Hunt, Martin Kaufmann, Steven Soule, Christy Macdonald, Thomas Upton
Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 57:186-191
Disorders of vitamin D metabolism have only recently become more widely recognized. In 2011, a series reported six children with familial idiopathic infantile hypercalcaemia, a condition in which patients develop hypercalcaemia following bolus vitami
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a1dda551fef9bf3566bdc81b88ac42
https://doi.org/10.1177/0004563219897691
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2
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
Autor: Paul J. Lockhart, David J. Amor, Vesna Lukic, Paul J Gow, Miriam Fanjul, Martin B. Delatycki, Edward D Janus, Alexa Kidd, Teddy Y. Wu, Melanie Bahlo, John S. Archer, Chloe A Stutterd, Marjo S van der Knaap, Anthony Raizis, Christopher M. Florkowski, Richard J. Leventer
Publikováno v: Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
Stutterd, C A, Kidd, A, Florkowski, C, Janus, E, Fanjul, M, Raizis, A, Wu, T Y, Archer, J, Leventer, R J, Amor, D J, Lukic, V, Bahlo, M, Gow, P, Lockhart, P J, van der Knaap, M S & Delatycki, M B 2021, ' Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations ', American Journal of Medical Genetics, Part A, vol. 185, no. 10, pp. 2941-2950 . https://doi.org/10.1002/ajmg.a.62377
American Journal of Medical Genetics, Part A, 185(10), 2941-2950. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 185(10), 2941-2950. Wiley-Liss Inc.
Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of ch
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495c164921dd63aeb844a7ac497a18be
https://research.vumc.nl/en/publications/c09a30e4-495f-470f-a6a6-a719bda15903
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4
Comparative aspects of the care of familial hypercholesterolemia in the 'Ten Countries Study'
Autor: Lourdes E. Gonzalez-Santos, Shizuya Yamashita, Miao Hu, Thanh Huong Truong, Peter M. George, Ta-Chen Su, Zanfina Ademi, Jing Pang, Min Ji Charng, Brian Tomlinson, Do Doan Loi, Jie Lin, Hapizah Md Nawawi, Handrean Soran, Lauretta A. Muir, Gerald F. Watts, A. David Marais, Raul D. Santos, Dick C. Chan, See Kwok, Christopher M. Florkowski
Publikováno v: Pang, J, Chan, D, Hu, M, Muir, L, Kwok, S, Charng, M-J, Florkowski, C, George, P, Lin, J, Loi, D D, Marais, A D, Nawawi, H, Gonzalez-Santos, L, Su, T-C, Truong, T H, Santos, R, Soran, H, Tomlinson, B, Yamashita, S, Ademi, Z & Watts, G 2019, ' Comparative aspects of the care of familial hypercholesterolemia in the ‘‘Ten Countries Study’’ ', Journal of Clinical Lipidology, pp. 287-300 . https://doi.org/10.1016/j.jacl.2019.01.009
BACKGROUND: There is a lack of information on the health care of familial hypercholesterolemia (FH).OBJECTIVE: The objective of this study was to compare the health care of FH in countries of the Asia-Pacific region and Southern Hemisphere.METHODS: A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930e62505c436925a3b4a5b527c0d787
https://doi.org/10.1016/j.jacl.2019.01.009
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5
Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand
Autor: Gerald F. Watts, Richard C O'Brien, Russell S. Scott, John R. Burnett, Elif I Ekinci, Christopher M. Florkowski, Warrick Bishop, Michael M. Page, Amanda J. Hooper, Nicola Reid
Publikováno v: Journal of clinical apheresisREFERENCES. 36(1)
Introduction Severe familial hypercholesterolaemia (FH) causes premature disability and death due to atherosclerotic cardiovascular disease and is refractory to standard lipid-lowering therapies. Lipoprotein apheresis (LA) has long been a standard of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc9528c328fe766e87149250f6c2407
https://pubmed.ncbi.nlm.nih.gov/32911577
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6
The Effect of Case-Mix on Hemolysis Rates Following the Christchurch Earthquake
Autor: Peter M. George, Joanne M Deely, Christopher M. Florkowski, Chris Frampton, Kevin Taylor
Publikováno v: Biomedical Journal of Scientific & Technical Research. 26
Understanding the effects of different clinical contexts on key quality indicators will help laboratories account for unforeseen errors when circumstances change. Our aim was to assess hemolysis in relation to changing case-mix before and after a maj
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7e606dbe309087b9f9f865930ec89ff1
https://doi.org/10.26717/bjstr.2020.26.004363
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7
A monoclonal antibody sandwich ELISA for vitamin D-binding protein (VDBP) is unaffected by Gc-globulin phenotype peptides and actin and demonstrates reduced levels in sepsis and non-sepsis intensive care patients
Autor: John G. Lewis, Christopher M. Florkowski, Peter A. Elder, Matthew P. Doogue, Katrina Hong
Publikováno v: Clinica Chimica Acta. 484:7-13
The measurement of vitamin D-binding protein (VDBP) by immunoassay has been confounded by variable antibody recognition of the Gc1s, Gc1F and Gc2 phenotypes. This has led to spurious conclusions regarding vitamin D status in different ethnic groups.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e82a3139bb9af5100bc8b72e212f65e
https://doi.org/10.1016/j.cca.2018.05.034
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8
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp)
Autor: Christopher M. Florkowski, Cindy Towns, Deborah Lambie, Chris Sies, Anthony Raizis, Wai-Kwan Siu
Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 55:616-619
A 21-year-old female had recurrent presentations to the emergency department with myalgia, vomiting, abdominal pain and subsequently developed generalized seizures. She was volume depleted with a plasma sodium of 125 mmol/L (reference interval: 135
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdabe56543484b108c17ffd0bca34b40
https://doi.org/10.1177/0004563218774597
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