Fatal viral infection-associated encephalopathy in two Chinese boys: A genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Journal of Human Genetics

Volumn 56, Issue 8, 2011, Pages 617-621

  Mak, Chloe Miu ^a   Lam, Ching Wan ^b   Fong, Nai Chung ^a   Siu, Wai Kwan ^a,c   Lee, Han Chih Hencher ^a   Siu, Tak Shing ^d   Lai, Chi Kong ^a   Law, Chun Yiu ^a   Tong, Sui Fun ^b   Poon, Wing Tat ^a   Lam, David Shu Yan ^c   Ng, Ho Leung ^c   Yuen, Yuet Ping ^a,e   Tam, Sidney ^d   Que, Tak Lun ^c   Kwong, Ngai Shan ^c   Chan, Albert Yan Wo ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c TUEN MUN HOSPITAL   (Hong Kong)

^d QUEEN MARY HOSPITAL   (Hong Kong)

^e CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Chinese; Coxsackie virus; H1N1 human swine influenza; influenza associated encephalopathy; thermolabile carnitine palmitoyltransferase II; viral infection associated encephalopathy

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ALLELE; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CHINESE; DEATH; DISEASE ASSOCIATION; FATALITY; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; INFLUENZA A; INFLUENZA VIRUS A; MALE; MULTIPLE ORGAN FAILURE; PRESCHOOL CHILD; RISK FACTOR;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENCEPHALITIS, VIRAL; ENZYME STABILITY; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFLUENZA, HUMAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RISK FACTORS; TEMPERATURE;

COXSACKIEVIRUS; SUIDAE;

EID: 80052136898     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.63     Document Type: Article

References (5)

1. Chen, Y., Mizuguchi, H., Yao, D., Ide, M., Kuroda, Y., Shigematsu, Y. et al. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett. 579, 2040-2044 (2005). (Pubitemid 40469667)
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