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Volumn 21, Issue , 2015, Pages 115-122

Infantile cases of sitosterolaemia with novel mutations in the ABCG5 gene: Extreme hypercholesterolaemia is exacerbated by breastfeeding

Author keywords

ABCG5; ABCG8; Ezetimibe; Familial hypercholesterolaemia; Sitosterolaemia

Indexed keywords


EID: 84973419345     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_404     Document Type: Chapter
Times cited : (42)

References (23)
  • 1
    • 33748151339 scopus 로고    scopus 로고
    • Simultaneous determination of plasmatic phytosterols and cholesterol precursors using gas chromatography–mass spectrometry (GC-MS) with selective ion monitoring (SIM)
    • 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
    • (2006) J Chromatogr B Analyt Technol Biomed Life Sci , vol.842 , pp. 43-47
    • Ahmida, H.S.1    Bertucci, P.2    Franzò, L.3
  • 3
    • 0016366624 scopus 로고
    • Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters
    • Bhattacharyya AK, Connor WE (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 53:1033–1043
    • (1974) J Clin Invest , vol.53 , pp. 1033-1043
    • Bhattacharyya, A.K.1    Connor, W.E.2
  • 4
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in serum, without use of the preparative ultracentrifuge
    • 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
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 6
    • 0032559809 scopus 로고    scopus 로고
    • Enzyme immunoassay for cholesteryl ester transfer protein in human serum
    • Kiyohara T, Kiriyama R, Zamma S et al (1998) Enzyme immunoassay for cholesteryl ester transfer protein in human serum. Clin Chim Acta 271:109–118
    • (1998) Clin Chim Acta , vol.271 , pp. 109-118
    • Kiyohara, T.1    Kiriyama, R.2    Zamma, S.3
  • 7
    • 69849111000 scopus 로고    scopus 로고
    • Plant stanol ester spreads as components of a balanced diet for pregnant and breast-feeding women: Evaluation of clinical safety
    • Laitinen K, Isolauri E, Kaipiainen L, Gylling H, Miettinen TA (2009) Plant stanol ester spreads as components of a balanced diet for pregnant and breast-feeding women: evaluation of clinical safety. Br J Nutr 101:1797–1804
    • (2009) Br J Nutr , vol.101 , pp. 1797-1804
    • Laitinen, K.1    Isolauri, E.2    Kaipiainen, L.3    Gylling, H.4    Miettinen, T.A.5
  • 8
    • 84905865817 scopus 로고    scopus 로고
    • Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation
    • Mabuchi H, Nohara A, Noguchi T et al (2014) Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation. Atherosclerosis 236:54–61
    • (2014) Atherosclerosis , vol.236 , pp. 54-61
    • Mabuchi, H.1    Nohara, A.2    Noguchi, T.3
  • 9
    • 77956063775 scopus 로고    scopus 로고
    • Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
    • Niu DM, Chong KW, Hsu JH et al (2010) Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. J Inherit Metab Dis 33:437–443
    • (2010) J Inherit Metab Dis , vol.33 , pp. 437-443
    • Niu, D.M.1    Chong, K.W.2    Hsu, J.H.3
  • 10
    • 77952428579 scopus 로고    scopus 로고
    • The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolemia by increasing PCSK9 function and concentration in the circulation
    • Noguchi T, Katsuda S, Kawashiri MA et al (2010) The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolemia by increasing PCSK9 function and concentration in the circulation. Atherosclerosis 210:166–172
    • (2010) Atherosclerosis , vol.210 , pp. 166-172
    • Noguchi, T.1    Katsuda, S.2    Kawashiri, M.A.3
  • 11
    • 77957254149 scopus 로고    scopus 로고
    • Dairy products and serum cholesterol levels
    • Ohlsson L (2010) Dairy products and serum cholesterol levels. Food Nutr Res 54:5124
    • (2010) Food Nutr Res , vol.54 , pp. 5124
    • Ohlsson, L.1
  • 12
    • 0036433097 scopus 로고    scopus 로고
    • Dyslipidemia in young Japanese children: Its relation to familial hypercholesterolemia and familial combined hyperlipidemia
    • Ohta T, Kiwaki K, Endo F, Umehashi H, Matsuda I (2002) Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia. Pediatr Int 44:602–607
    • (2002) Pediatr Int , vol.44 , pp. 602-607
    • Ohta, T.1    Kiwaki, K.2    Endo, F.3    Umehashi, H.4    Matsuda, I.5
  • 13
    • 84899925117 scopus 로고    scopus 로고
    • Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: Case report and brief review
    • Park JH, Chung IH, Kim DH, Choi MH, Garg A, Yoo EG (2014) Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review. J Clin Endocrinol Metab 99:1512–1518
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 1512-1518
    • Park, J.H.1    Chung, I.H.2    Kim, D.H.3    Choi, M.H.4    Garg, A.5    Yoo, E.G.6
  • 14
    • 77958469483 scopus 로고    scopus 로고
    • Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
    • Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet 19:4313–4318
    • (2010) Hum Mol Genet , vol.19 , pp. 4313-4318
    • Rios, J.1    Stein, E.2    Shendure, J.3    Hobbs, H.H.4    Cohen, J.C.5
  • 17
    • 0017718110 scopus 로고
    • A simple colorimetric method for determination of serum triglycerides with lipoprotein lipase and glycerol dehydrogenase
    • Sugiura M, Oikawa T, Hirano K et al (1977) A simple colorimetric method for determination of serum triglycerides with lipoprotein lipase and glycerol dehydrogenase. Clin Chim Acta 81:125–130
    • (1977) Clin Chim Acta , vol.81 , pp. 125-130
    • Sugiura, M.1    Oikawa, T.2    Hirano, K.3
  • 18
    • 84860851277 scopus 로고    scopus 로고
    • Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: Results from stable isotope kinetic study in vivo
    • Tada H, Kawashiri MA, Ikewaki K et al (2012) Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. Circ Cardiovasc Genet 5:35–41
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 35-41
    • Tada, H.1    Kawashiri, M.A.2    Ikewaki, K.3
  • 19
    • 77958569347 scopus 로고    scopus 로고
    • Current therapy for patients with sitosterolemia–effect of ezetimibe on plant sterol metabolism
    • Tsubakio-Yamamoto K, Nishida M, et al (2010) Current therapy for patients with sitosterolemia–effect of ezetimibe on plant sterol metabolism. J Atheroscler Thromb 17:891–900
    • (2010) J Atheroscler Thromb , vol.17 , pp. 891-900
    • Tsubakio-Yamamoto, K.1    Nishida, M.2
  • 20
    • 84896813122 scopus 로고    scopus 로고
    • Specific macrothrombocytopenia/ hemolytic anemia associated with sitosterolemia
    • Wang Z, Cao L, Su Y et al (2014) Specific macrothrombocytopenia/ hemolytic anemia associated with sitosterolemia. Am J Hematol 89:320–324
    • (2014) Am J Hematol , vol.89 , pp. 320-324
    • Wang, Z.1    Cao, L.2    Su, Y.3
  • 22
    • 33748792007 scopus 로고    scopus 로고
    • Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands
    • Yang C, McDonald JG, Patel A et al (2006) Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands. J Biol Chem 281:27816–27826
    • (2006) J Biol Chem , vol.281 , pp. 27816-27826
    • Yang, C.1    McDonald, J.G.2    Patel, A.3
  • 23
    • 0034577568 scopus 로고    scopus 로고
    • Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia
    • Yoshida A, Naito M, Miyazaki K (2000) Japanese sisters associated with pseudohomozygous familial hypercholesterolemia and sitosterolemia. J Atheroscler Thromb 7:33–38
    • (2000) J Atheroscler Thromb , vol.7 , pp. 33-38
    • Yoshida, A.1    Naito, M.2    Miyazaki, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.