Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding-Reference-Cited by-同舟云学术

Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding

Published:2015 Issue: Volume: Page:115-122
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Tada Hayato,Kawashiri Masa-aki,Takata Mutsuko,Matsunami Kunihiro,Imamura Atsushi,Matsuyama Misayo,Sawada Hirotake,Nunoi Hiroyuki,Konno Tetsuo,Hayashi Kenshi,Nohara Atsushi,Inazu Akihiro,Kobayashi Junji,Mabuchi Hiroshi,Yamagishi Masakazu

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_404

Reference23 articles.

1. Ahmida HS, Bertucci P, Franzò L et al (2006) Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography–mass spectrometry (GC-MS) with selective ion monitoring (SIM). J Chromatogr B Analyt Technol Biomed Life Sci 842:43–47

2. Allain CC, Poon LS, Chan CS, Richmond W, Fu PC (1974) Enzymatic determination of total serum cholesterol. Clin Chem 20:470–475

3. Bhattacharyya AK, Connor WE (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 53:1033–1043

4. Friedewald WT, Levy RI, Fredrickson DS (1972) Estimation of the concentration of low-density lipoprotein cholesterol in serum, without use of the preparative ultracentrifuge. Clin Chem 18:499–502

5. Kajikawa T, Ishiki R, Nakao Y et al (1981) Determination of high-density lipoprotein cholesterol by heparin-Ca2+ precipitation and enzymatic measurement. J Jpn Atheroscler Soc 9:393–398

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