SCOPUS 정보 검색 플랫폼

Journal of Lipid Research

Volumn 42, Issue 10, 2001, Pages 1571-1577

Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C

(5) Alvelius, Gunvor a Hjalmarson, Ola b Griffiths, William J c Björkhem, Ingemar a Sjövall, Jan c

a KAROLINSKA UNIVERSITY HOSPITAL (Sweden)

b SAHLGRENSKA UNIVERSITY HOSPITAL (Sweden)

c KAROLINSKA INSTITUTE (Sweden)

Author keywords

Bile acid biosynthesis; Bile acid conjugates; Chromatography; Inborn metabolic disease; Mass spectrometry; Urine

Indexed keywords

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; BILE ACID; HEXOSAMINE; HYDROXYACID; N ACETYLGLUCOSAMINE; SULFATE;

ARTICLE; BILE ACID METABOLISM; CASE REPORT; CHOLESTASIS; EXTRAMEDULLARY HEMATOPOIESIS; HEPATITIS; HEPATOSPLENOMEGALY; HUMAN; HYDROXYLATION; INFANT; MALE; MUSCLE HYPOTONIA; NIEMANN PICK DISEASE; OXYGENATION; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY TRACT DISEASE; RICKETS; URINALYSIS;

BILE ACIDS AND SALTS; CHILD, PRESCHOOL; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; LIVER; MALE; NIEMANN-PICK DISEASES; OXYGEN; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 0034759769 PISSN: 00222275 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (69)

References (35)

1
- 0000831301
- Niemann-Pick disease type C: A lipid trafficking disorder
- C. R. Scriver, A. L. Baudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York
- (2001) Metabolic Basis of Inherited Disease , pp. 3611-3633
- Patterson, M.C.¹ Vanier, M.T.² Suzuki, K.³ Morris, J.A.⁴ Carstea, E.D.⁵ Neufield, E.B.⁶ Blanchette-Mackie, J.E.⁷ Pentchev, P.G.⁸

2
- 0030863352
- Niemann-Pick Cl Cl disease gene: Homology to mediators of cholesterol homeostasis
- (1997) Science , vol.277 , pp. 228-231
- Carstea, E.D.¹ Morris, J.A.² Coleman, K.G.³ Loftus, S.K.⁴ Zhang, D.⁵ Cummings, C.⁶ Gu, J.⁷ Rosenfeld, M.A.⁸ Pavan, W.J.⁹ Krizman, D.B.¹⁰ Nagle, J.¹¹ Polymeropoulos, M.H.¹² Sturley, S.L.¹³ Ioannou, Y.A.¹⁴ Higgins, M.E.¹⁵ Comley, M.¹⁶ Cooney, A.¹⁷ Brown, A.¹⁸ Kanesky, C.R.¹⁹ Blanchette-Mackie, E.J.²⁰ more..

3
- 0032231442
- The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097 to T transversion in NPCl
- (1998) Am. J. Hum. Genet. , vol.63 , pp. 52-54
- Greer, W.L.¹ Riddell, D.C.² Gillan, T.L.³ Girouard, G.S.⁴ Sparrow, S.M.⁵ Byers, D.M.⁶ Dobson, M.J.⁷ Neumann, P.E.⁸

4
- 0034704244
- Transmembrane molecular pump activity of Niemann-Pick Cl protein
- (2000) Science , vol.290 , pp. 2295-2298
- Davies, J.P.¹ Chen, F.W.² Ioannou, Y.A.³

5
- 0034704245
- Identification of HE1 as the second gene of Niemann-Pick C disease
- (2000) Science , vol.290 , pp. 2298-2301
- Naureckiene, S.¹ Sleat, D.E.² Lackland, H.³ Fensom, A.⁴ Vanier, M.T.⁵ Wattiaux, R.⁶ Jadot, M.⁷ Lobel, P.⁸

6
- 0034759769
- Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C (Abstract)
- John Wiley and Sons Ltd., Chichester, UK. In press
- (2001) In Proceedings of the 15th International Mass Spectrometry Conference
- Alvelius, G.¹ Hjalmarson, O.² Griffiths, W.J.³ Björkhem, I.⁴ Sjövall, J.⁵

7
- 33947458838
- Oxidation of cholesterol
- (1953) J. Am. Chem. Soc. , vol.75 , pp. 4386-4393
- Fieser, L.L.¹

8
- 0017397052
- Analysis of metabolic profiles of bile acids in urine using a lipophilic anion exchanger and computerized gas-liquid chromatographymass spectrometry
- (1977) J. Lipid Res. , vol.18 , pp. 339-362
- Almé, B.¹ Bremmelgaard, A.² Sjövall, J.³ Thomassen, P.⁴

9
- 0031561739
- Method for combined analysis of profiles of conjugated progesterone metabolites and bile acids in serum and urine of pregnant women
- (1997) J. Chromatogr. Biomed. Sci. Appl. , vol.688 , pp. 11-26
- Meng, L.J.¹ Sjövall, J.²

10
- 0025834646
- 27-steroid dehydrogenase deficiency: Effects of chenodeoxycholic acid treatment
- (1991) J. Lipid Res. , vol.32 , pp. 829-841
- Ichimiya, H.¹ Egestad, B.² Nazer, H.³ Baginski, E.S.⁴ Clayton, P.T.⁵ Sjövall, J.⁶

11
- 0002767065
- MO-TMS derivatives of human urinary steroids for GC and GC-MS studies
- (1972) Anal. Lett. , vol.5 , pp. 21-33
- Thenot, J.-P.¹ Horning, E.C.²

12
- 0032510827
- Methylated Nεdansyl-L-lysine as a fluorogenic reagent for the chiral separation of carboxylic acids
- (1998) J. Chromatogr. B. , vol.710 , pp. 211-218
- Hayamizu, T.¹ Kudoh, S.² Nakamura, H.³

13
- 0023193394
- Familial giant cell hepatitis associated with synthesis of 3β,7α-dihydroxy-and 3β,7α,12αtrihydroxy-5-cholenoic acids
- (1987) J. Clin. Invest. , vol.79 , pp. 1031-1038
- Clayton, P.T.¹ Leonard, J.V.² Lawson, A.M.³ Setchell, K.D.R.⁴ Andersson, S.⁵ Egestad, B.⁶ Sjövall, J.⁷

14
- 0023935099
- 4- bile acids in liver disease
- (1988) Lancet , vol.2 , pp. 1283-1284
- Clayton, P.T.¹ Patel, E.² Lawson, A.M.³ Carruthers, R.A.⁴ Tanner, M.S.⁵ Strandvik, B.⁶ Egestad, B.⁷ Sjövall, J.⁸

15
- 0030853916
- Analysis of bile acids and bile alcohols in urine by capillary column liquid chromatography-mass spectrometry using fast atom bombardment or electrospray ionization and collision-induced dissociation
- (1997) Biomed. Chromatogr. , vol.11 , pp. 240-255
- Yang, Y.¹ Griffiths, W.J.² Nazer, H.³ Sjövall, J.⁴

16
- 0030906963
- High levels of (24S)-24-hydroxycholesterol 3-sulfate, 24-glucuronide in the serum and urine of children with severe cholestatic liver disease
- (1997) J. Lipid Res. , vol.38 , pp. 926-934
- Meng, L.J.¹ Griffiths, W.J.² Nazer, H.³ Yang, Y.⁴ Sjövall, J.⁵

17
- 0024246224
- 4-3-Oxosteroid 5β-reductase deficiency described in identical twins with neonatal hepatitis
- (1988) J. Clin. Invest. , vol.82 , pp. 2148-2157
- Setchell, K.D.R.¹ Suchy, F.J.² Welsh, M.B.³ Zimmer-Nechemias, L.⁴ Heubi, J.⁵ Balistreri, W.F.⁶

18
- 0032211865
- Identification of a new inborn error in bile acid synthesis: Mutation of the oxysterol 7α-hydroxylase gene causes severe neonatal liver disease
- (1998) J. Clin. Invest. , vol.102 , pp. 1690-1703
- Setchell, K.D.R.¹ Schwartz, M.² O'Connell, N.C.³ Lund, E.⁴ Davis, D.L.⁵ Lathe, R.⁶ Thompson, H.R.⁷ Tyson, R.W.⁸ Sokol, R.J.⁹ Russell, D.W.¹⁰

19
- 0025875876
- Inborn errors of bile acid metabolism
- (1991) J. Inherit. Metab. Dis. , vol.14 , pp. 478-496
- Clayton, P.T.¹

20
- 0028942689
- Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: A new inborn error of bile acid synthesis?
- (1995) Pediatr. Res. , vol.37 , pp. 424-431
- Clayton, P.T.¹ Casteels, M.² Mieli-Vergani, G.³ Lawson, A.M.⁴

21
- 0026691374
- Bile acid N-acetylglucosaminidation. In vivo and in vitro evidence for a selective conjugation reaction of 7βhydroxylated bile acids in humans
- (1992) J. Clin. Invest. , vol.89 , pp. 1981-1987
- Marschall, H.-U.¹ Matern, H.² Wietholtz, B.³ Egestad, S.⁴ Matern, S.⁵ Sjövall, J.⁶

22
- 0027339734
- 27-intermediates in bile acid biosynthesis and their deuterium-labeled analogs
- (1993) Steroids , vol.58 , pp. 119-125
- Shoda, J.¹ Axelson, M.² Sjövall, J.³

23
- 0027978472
- Positions of conjugation of bile acids with glucose and N-acetylglucosamine in vitro
- (1994) J. Lipid Res. , vol.35 , pp. 1599-1610
- Marschall, H.-U.¹ Griffiths, W.J.² Zhang, J.³ Wietholtz, H.⁴ Matern, H.⁵ Matern, S.⁶ Sjövall, J.⁷

24
- 0000328968
- Mass spectrometry in studies of inherited and acquired diseases of bile acid synthesis and metabolism
- I. Matsumoto, T. Kuhara, O. A. Mamer, L. Sweetman, and R. G. Calderhead, editors. Kanazawa Medical University Press, Kanazawa, Japan
- (1994) Advances in Chemical Diagnosis and Treatment of Metabolic Disorders , vol.2 , pp. 107-122
- Sjövall, J.¹

25
- 0032006594
- Urinary 7α-hydroxy-3-oxochol-4-en-24-oic and 3-oxochola-4,6-dien-24-oic acids in infants with cholestasis
- (1998) J. Hepatol. , vol.28 , pp. 270-279
- Kimura, A.¹ Suzuki, M.² Murai, T.³ Kurosawa, T.⁴ Tohma, M.⁵ Sata, M.⁶ Inoue, T.⁷ Hoshiyama, A.⁸ Nakashima, E.⁹ Yamashita, Y.¹⁰ Fujisawa, T.¹¹ Kato, H.¹²

26
- 0019217205
- Hydroxylation of cholic, chenodeoxycholic, and deoxycholic acids in patients with intrahepatic cholestasis
- (1980) J. Lipid Res. , vol.21 , pp. 1072-1081
- Bremmelgaard, A.¹ Sjövall, J.²

27
- 0027414207
- Formation of 7α- and 7β-hydroxylated bile acid precursors from 27-hydroxycholesterol in human liver microsomes and mitochondria
- (1993) Hepatology , vol.17 , pp. 395-403
- Shoda, J.¹ Toll, A.² Axelson, M.³ Pieper, F.⁴ Wikvall, K.⁵ Sjövall, J.⁶

28
- 0022993462
- Bile acid biosynthesis. Metabolism of 3β-hydroxy-5-cholenoic acid to chenodeoxycholic acid
- (1986) J. Biol. Chem. , vol.261 , pp. 12486-12489
- Javitt, N.B.¹ Kok, E.² Carubbi, F.³ Blizzard, T.⁴ Gut, M.⁵ Byon, C.Y.⁶

29
- 0029664964
- 27-steroid dehydrogenase from pig liver microsomes active in major and alternative pathways of bile acid biosynthesis
- (1996) J. Biol. Chem. , vol.271 , pp. 20903-20907
- Furster, C.¹ Zhang, J.² Toll, A.³

30
- 0033521697
- 27-steroid dehydrogenase in pig tissues and subcellular fractions
- (1999) Biochim. Biophys. Acta , vol.1436 , pp. 343-353
- Furster, C.¹

31
- 0033766717
- 27-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
- (2000) J. Clin. Invest. , vol.106 , pp. 1175-1184
- Schwarz, M.¹ Wright, A.C.² Davies, D.L.³ Nazer, H.⁴ Björkhem, I.⁵ Russell, D.W.⁶

32
- 0014287967
- Effect of sodium taurolithocholate on bile flow and bile excretion
- (1968) J. Clin. Invest. , vol.47 , pp. 1002-1014
- Javitt, N.B.¹ Emerman, S.²

33
- 0020562698
- Monohydroxy bile salt sulfates: Tauro-3β-hydroxy-5-cholenoate-3-sulfate induces intrahepatic cholestasis in rats
- (1983) Gastmenterology , vol.85 , pp. 674-681
- Mathis, U.¹ Karlaganis, G.² Preisig, R.³

34
- 0031055345
- Differential interaction of bile acids from patients with inborn errors of bile acid synthesis with hepatocellular bile acid transporters
- (1997) Eur. J. Biochem. , vol.244 , pp. 39-44
- Stieger, B.¹ Zhang, J.² O'Neill, B.³ Sjövall, J.⁴ Meier, P.J.⁵

35
- 0031970926
- Niemann-Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates
- (1999) J. Inher. Metab. Dis. , vol.21 , pp. 149-154
- Sequeira, J.S.S.¹ Vellodi, A.² Vanier, M.T.³ Clayton, P.T.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.