메뉴 건너뛰기




Volumn 93, Issue 2, 2008, Pages

Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia

Author keywords

[No Author keywords available]

Indexed keywords

CAMPESTEROL; FUCOSTEROL; LIPID EMULSION; SITOSTEROL;

EID: 40849094586     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12311     Document Type: Note
Times cited : (7)

References (10)
  • 1
    • 36349023808 scopus 로고    scopus 로고
    • Inherited thrombocytopenias
    • Nurden AT, Nurden P. Inherited thrombocytopenias. Haematologica 2007;92:1158-64.
    • (2007) Haematologica , vol.92 , pp. 1158-1164
    • Nurden, A.T.1    Nurden, P.2
  • 2
    • 0014695034 scopus 로고
    • Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome
    • Ducrou W, Kimber RJ. Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome. Med J Australia 1969;1087-91.
    • (1969) Med J Australia , pp. 1087-1091
    • Ducrou, W.1    Kimber, R.J.2
  • 3
    • 0016782782 scopus 로고
    • Mediterranean macrothrombocytopenia
    • von Behrens W. Mediterranean macrothrombocytopenia. Blood 1975;46:199-208.
    • (1975) Blood , vol.46 , pp. 199-208
    • von Behrens, W.1
  • 4
    • 33644924063 scopus 로고    scopus 로고
    • Mediterranean stomatocytosis/ macrothrombocytopenia: Update from Adelaide, Australia
    • Stewart GW, Lloyd J, Pegel K. Mediterranean stomatocytosis/ macrothrombocytopenia: update from Adelaide, Australia. Br J Haematol 2006;132:660-1.
    • (2006) Br J Haematol , vol.132 , pp. 660-661
    • Stewart, G.W.1    Lloyd, J.2    Pegel, K.3
  • 5
    • 0035282727 scopus 로고    scopus 로고
    • Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
    • Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-5.
    • (2001) Blood , vol.97 , pp. 1330-1335
    • Savoia, A.1    Balduini, C.L.2    Savino, M.3    Noris, P.4    Del Vecchio, M.5    Perrotta, S.6
  • 6
    • 0016366624 scopus 로고
    • Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters
    • Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest 1974;53:1033-43.
    • (1974) J Clin Invest , vol.53 , pp. 1033-1043
    • Bhattacharyya, A.K.1    Connor, W.E.2
  • 7
    • 0034915332 scopus 로고    scopus 로고
    • Two genes that map to the STSL locus cause sitosterolemia: Genomic structure and spectrum of mutations involving sterolin-1 and sterolin- 2, encoded by ABCG5 and ABCG8, respectively
    • Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin- 2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genetics 2001;69:278-90.
    • (2001) Am J Hum Genetics , vol.69 , pp. 278-290
    • Lu, K.1    Lee, M.H.2    Hazard, S.3    Brooks-Wilson, A.4    Hidaka, H.5    Kojima, H.6
  • 8
    • 24944465805 scopus 로고    scopus 로고
    • Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
    • Rees D, Iolascon A, Carella M, O'Marcaigh A, Kendra J, Jowitt S, et al. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 2005;130:297-309.
    • (2005) Br J Haematol , vol.130 , pp. 297-309
    • Rees, D.1    Iolascon, A.2    Carella, M.3    O'Marcaigh, A.4    Kendra, J.5    Jowitt, S.6
  • 9
    • 33749991315 scopus 로고    scopus 로고
    • Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities
    • Su Y, Wang Z, Yang H, Cao L, Liu F, Bai X, et al. Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. Haematologica 2006;91:1392-5.
    • (2006) Haematologica , vol.91 , pp. 1392-1395
    • Su, Y.1    Wang, Z.2    Yang, H.3    Cao, L.4    Liu, F.5    Bai, X.6
  • 10
    • 0027141358 scopus 로고    scopus 로고
    • Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ. Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease. Gastroenterology 1993;105:1806-13.
    • Clayton PT, Bowron A, Mills KA, Massoud A, Casteels M, Milla PJ. Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease. Gastroenterology 1993;105:1806-13.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.