Zobrazeno 1 - 10 of 87 pro vyhledávání: '"L K, Law"'
1
Classical galactosaemia in Chinese: A case report and review of disease incidence
Autor: K L, Cheung, Nls, Tang, K J, Hsiao, L K, Law, W, Wong, P C, Ng, C P, Pang, D A, Applegarth, T F, Fok, N M, Hjelm
Publikováno v: Journal of paediatrics and child health. 35(4)
We report a case of galactose-1-phosphate uridyl transferase (GALT) deficiency in a full-term Chinese neonate, who presented with atypical biochemical features of hyperammonaemia in addition to the classical presenting features of jaundice and lethar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ce6cc382ab58a3a47585294be89f9824
https://pubmed.ncbi.nlm.nih.gov/28871650
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2
Pseudohyperkalaemia with acute leukaemia: association with pneumatic tube transport of blood specimens
Autor: Rocky L K Law, Albert S W Ku, Robin H S Chen
Publikováno v: Hong Kong Medical Journal. :158-160
Falsely elevated serum or plasma potassium level can be the result of mechanical injury to blood cells. We describe pseudohyperkalaemia caused by pneumatic tube transport of blood specimens from a patient with leukaemia. Clinicians should be aware of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ea8d49228b80ec4ec438ecb8005202
https://doi.org/10.12809/hkmj133881
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3
A novel functional assay for simultaneous determination of total fatty acid β-oxidation flux and acylcarnitine profiling in human skin fibroblasts using 2H31-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry
Autor: Joannie Hui, Ronald J.A. Wanders, Chung Shun Ho, Jos P.N. Ruiter, L. K. Law, Nelson L.S. Tang, Christopher W.K. Lam, Tai Fai Fok
Publikováno v: Clinica chimica acta; international journal of clinical chemistry, 382(1-2), 25-30. Elsevier
BACKGROUND: Two separate and complementary assays, total mitochondrial fatty acid beta-oxidation (FAO) flux rate and acylcarnitine profiling, have been used to establish a definitive diagnosis of FAO defects (FAOD) in cultured cells. We developed a n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::505fd12a04c962654880e5e51ecbb2dd
https://doi.org/10.1016/j.cca.2007.03.011
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4
Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib
Autor: Nelson L.S. Tang, L. K. Law, Joannie Hui, Tai Fai Fok, CW Lam
Publikováno v: Journal of Inherited Metabolic Disease. 26:705-709
We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8db8a5728671256d02a0a3f27c23877
https://doi.org/10.1023/b:boli.0000005603.04633.21
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5
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency
Autor: Joannie Hui, Collin K.K. Yong, Nelson L.S. Tang, Simon L.M. Fung, Ying Man Sung, Kam Lau Cheung, Tai Fai Fok, Lawrence T.K. Wong, L. K. Law, Tony W. L. Mak, Hilary Vallance, Derek A. Applegarth
Publikováno v: Clinical Biochemistry. 36:145-149
Objective Multiple carboxylase deficiency (MCD, MIM:253270) is a common organic aciduria and caused by deficiency of either biotinidase or holocarboxylase synthetase (HLCS; EC 6.3.4.10). Patients commonly present during early infancy with acute metab
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab661cab8f09a6f011896fcbc592f204
https://doi.org/10.1016/s0009-9120(02)00432-0
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8
Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I
Autor: Willem J. H. van Berkel, Thea de Rijk, Kam Lau Cheung, Albert M. Li, Jan P. Dekker, Michel H.M. Eppink, Dirk Roos, Rob van Zwieten, Angel F. Remacha, L. K. Law
Publikováno v: Blood : journal of the American Society of Hematology 97 (2001) 4
Blood, 97, 1106-1114. American Society of Hematology
Blood : journal of the American Society of Hematology, 97(4), 1106-1114
Cytochrome b5 reductase (b5R) deficiency manifests itself in 2 distinct ways. In methemoglobinemia type I, the patients only suffer from cyanosis, whereas in type II, the patients suffer in addition from severe mental retardation and neurologic impai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c2c8d49627065a3eb52a2df0b29a8b
https://doi.org/10.1182/blood.V97.4.1106
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9
Prevalence of Mutations in the BRCA1 Gene Among Chinese Patients With Breast Cancer
Autor: L. K. Law, Michael Suen, Chi Pui Pang, Nelson L.S. Tang, Kwong Wai Choy, Philip J. Johnson, Winnie Yeo, P. Kuen Lam, Walter W. K. King, Magnus Hjelm
Publikováno v: Journal of the National Cancer Institute. 91:882-885
Inherited mutations in the tumor susceptibility genes BRCA1 and BRCA2 account for about 70%–90% of familial breast cancer in most Caucasian populations while BRCA1 mutations alone contribute to about half of the cases (1– 3). Epidemiologic data f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69074a96c0e1506022b85441b70e8ada
https://doi.org/10.1093/jnci/91.10.882
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10
Genetic and environmental risk factors for Parkinson's disease in a Chinese population
Autor: K Orr, W T Hung, S C Ho, Richard Kay, L K Law, D K Y Chan, Jean Woo, Chi Pui Pang, P W Ng, Timothy Kwok, M F Leung, E Hui
Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 65:781-784
An epidemiological study of the environmental and genetic factors as well as the possible interplay between them was conducted among 215 patients with Parkinson's disease and 313 controls in a Chinese population in Hong Kong. In univariate analysis,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e011e725227ba6630e8f8d6983cf051
https://doi.org/10.1136/jnnp.65.5.781
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