Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years
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Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children : an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. / Banner, Jytte; Kølvraa, S; Gregersen, N; Christensen, Erik; Gregersen, M.
In: Journal of Clinical Pathology, Vol. 50, No. 4, 08.1997, p. 212-7.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children
T2 - an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years
AU - Banner, Jytte
AU - Kølvraa, S
AU - Gregersen, N
AU - Christensen, Erik
AU - Gregersen, M
PY - 1997/8
Y1 - 1997/8
N2 - Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl CoA dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found.
AB - Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl CoA dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found.
KW - Acyl-CoA Dehydrogenase
KW - Acyl-CoA Dehydrogenases
KW - Cell Culture Techniques
KW - Child, Preschool
KW - Fatty Acids
KW - Female
KW - Fibroblasts
KW - Heterozygote
KW - Humans
KW - Infant
KW - Infant, Newborn
KW - Lipid Metabolism, Inborn Errors
KW - Male
KW - Oxidation-Reduction
KW - Point Mutation
KW - Prospective Studies
KW - Sudden Infant Death
M3 - Journal article
C2 - 9350306
VL - 50
SP - 212
EP - 217
JO - Journal of Clinical Pathology
JF - Journal of Clinical Pathology
SN - 0021-9746
IS - 4
ER -
ID: 46809982