A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency

Case report: A case is presented of predisposing a patient's father with obligate heterozygous lipoprotein lipase (LPL) deficiency to mild hypertriglyceridemia in Japanese I-family members ( n=8) with patient DI, who was a compound heterozygote for a novel missense mutation of G154V (G G 716C→G...

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Veröffentlicht in:	Clinica chimica acta 2002-02, Vol.316 (1), p.179-185
Hauptverfasser:	Ikeda, Yasuyuki, Takagi, Atsuko, Nakata, Yuusei, Sera, Yasuhiko, Hyoudou, Sumio, Hamamoto, Kazuko, Nishi, Yoshikazu, Yamamoto, Akira
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Biological and medical sciences Child, Preschool Disorders of blood lipids. Hyperlipoproteinemia Family Health Female Genetic Markers Heterozygote Humans Hyperinsulinemia Hyperinsulinism - genetics Hyperlipoproteinemia Type I - genetics Hypertriglyceridemia Hypertriglyceridemia - genetics Infant Insulin resistance Insulin Resistance - genetics Japan Lipoprotein Lipase - genetics Lipoprotein Lipase - metabolism LPL gene Male Medical sciences Metabolic diseases Middle Aged Mutation - genetics Mutation, Missense - genetics Pedigree RNA Splice Sites - genetics Type I hyperlipoproteinemia Type IV hyperlipoproteinemia
Online-Zugang:	Volltext
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