SCOPUS 정보 검색 플랫폼

Volumn 165, Issue 1, 2006, Pages 68-70

An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis

(11) Sakamoto, Osamu a Abukawa, Daiki b Takeyama, Junji b Arai, Nobuhiro c Nagano, Makoto d Hattori, Hiroaki d Egashira, Tohru d Sakai, Naohiko e Yamashita, Shizuya e Iinuma, Kazuie a Ohura, Toshihiro a

a TOHOKU UNIVERSITY SCHOOL OF MEDICINE (Japan)

b MIYAGI CHILDREN S HOSPITAL (Japan)

c Shiogama City Hospital (Japan)

d BML (Japan)

e OSAKA UNIVERSITY (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOL; TOCOPHEROL;

ABETALIPOPROTEINEMIA; ACANTHOCYTOSIS; ARTICLE; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ELECTRON MICROSCOPY; FATTY LIVER; GENE MUTATION; GENETIC SCREENING; HUMAN; LABORATORY TEST; LIVER BIOPSY; MALE; PRIORITY JOURNAL; STEATORRHEA;

ABETALIPOPROTEINEMIA; DIAGNOSIS, DIFFERENTIAL; FATTY LIVER; HUMANS; INFANT; MALE;

EID: 29244453979 PISSN: 03406199 EISSN: None Source Type: Journal
DOI: 10.1007/s00431-005-1751-7 Document Type: Article

Times cited : (11)

References (6)

1
- 0041630959
- Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia
- Al-Shali K, Wang J, Rosen F, Hegele RA (2003) Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clin Genet 63: 135-138
- (2003) Clin Genet , vol.63 , pp. 135-138
- Al-Shali, K.¹ Wang, J.² Rosen, F.³ Hegele, R.A.⁴

2
- 0001327424
- Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
- Bassen FA, Kornzweig AL (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5: 381-387
- (1950) Blood , vol.5 , pp. 381-387
- Bassen, F.A.¹ Kornzweig, A.L.²

3
- 0242304509
- Microsomal triglyceride transfer protein: A multifunctional protein
- Hussain MM, Iqbal J, Anwar K, Rava P, Dai K (2003) Microsomal triglyceride transfer protein: a multifunctional protein. Front Biosci 8: 500-506
- (2003) Front Biosci , vol.8 , pp. 500-506
- Hussain, M.M.¹ Iqbal, J.² Anwar, K.³ Rava, P.⁴ Dai, K.⁵

4
- 0033847378
- Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia
- Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N (2000) Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res 41: 1199-1204
- (2000) J Lipid Res , vol.41 , pp. 1199-1204
- Ohashi, K.¹ Ishibashi, S.² Osuga, J.³ Tozawa, R.⁴ Harada, K.⁵ Yahagi, N.⁶ Shionoiri, F.⁷ Iizuka, Y.⁸ Tamura, Y.⁹ Nagai, R.¹⁰ Illingworth, D.R.¹¹ Gotoda, T.¹² Yamada, N.¹³

5
- 0027428820
- Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
- Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ, Aggerbeck LP, Gregg RE, Gordon DA, Wetterau JR (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365: 65-69
- (1993) Nature , vol.365 , pp. 65-69
- Sharp, D.¹ Blinderman, L.² Combs, K.A.³ Kienzle, B.⁴ Ricci, B.⁵ Wager-Smith, K.⁶ Gil, C.M.⁷ Turck, C.W.⁸ Bouma, M.E.⁹ Rader, D.J.¹⁰ Aggerbeck, L.P.¹¹ Gregg, R.E.¹² Gordon, D.A.¹³ Wetterau, J.R.¹⁴

6
- 0026470990
- Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
- Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier M, Schmitz J, Gay G, Rader DJ, Gregg RE (1992) Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 258: 999-1001
- (1992) Science , vol.258 , pp. 999-1001
- Wetterau, J.R.¹ Aggerbeck, L.P.² Bouma, M.E.³ Eisenberg, C.⁴ Munck, A.⁵ Hermier, M.⁶ Schmitz, J.⁷ Gay, G.⁸ Rader, D.J.⁹ Gregg, R.E.¹⁰

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.