SCOPUS 정보 검색 플랫폼

Volumn , Issue , 2008, Pages 483-495

Diagnosis of inherited defects of cholesterol biosynthesis

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EID: 84889778789 PISSN: None EISSN: None Source Type: Book
DOI: 10.1007/978-3-540-76698-8_24 Document Type: Chapter

Times cited : (1)

References (11)

1
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2
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- Facts and artefacts in mevalonic aciduria: Development of a stable isotope dilution gcms assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
- Hoffmann GF, Sweetman L, et al. (1991) Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta 198:209-227
- (1991) Clin Chim Acta , vol.198 , pp. 209-227
- Hoffmann, G.F.¹ Sweetman, L.²

3
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- Mevalonate kinase assay using deae-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria
- Hoffmann GF, Brendel SU, et al. (1992) Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. J Inherit Metab Dis 15:738-746
- (1992) J Inherit Metab Dis , vol.15 , pp. 738-746
- Hoffmann, G.F.¹ Brendel, S.U.²

4
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- Measurement of 3β-hydroxysteroid ?7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: A new method for the diagnosis of the smith-lemli-opitz syndrome
- Honda M, Tint GS, et al (1996) Measurement of 3β-hydroxysteroid ?7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome. J. Lipid Res 37:2433-2438
- (1996) J. Lipid Res , vol.37 , pp. 2433-2438
- Honda, M.¹ Tint, G.S.²

5
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- Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
- Houten SM, Frenkel J, Waterham HR (2003) Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 60:1118-1134
- (2003) Cell Mol Life Sci , vol.60 , pp. 1118-1134
- Houten, S.M.¹ Frenkel, J.² Waterham, H.R.³

6
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- The smith-lemli-opitz syndrome
- Kelley RI, Hennekam RCM (2000) The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335
- (2000) J Med Genet , vol.37 , pp. 321-335
- Kelley, R.I.¹ Hennekam, R.C.M.²

7
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- Inborn errors of sterol biosynthesis
- Kelley RI, Herman GE (2001) Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet 2:299-341
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- Kelley, R.I.¹ Herman, G.E.²

8
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- Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
- Mandey SH, Schneiders MS, et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat 27:796-802
- (2006) Hum Mutat , vol.27 , pp. 796-802
- Mandey, S.H.¹ Schneiders, M.S.²

9
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- Inherited disorders of cholesterol biosynthesis
- Waterham HR (2002) Inherited disorders of cholesterol biosynthesis. Clin Genet 61:393-403
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10
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- Defects of cholesterol biosynthesis
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11
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- Mutations in the 3β-hydroxysteroid ?24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
- Waterham HR, Koster J, et al. (2001) Mutations in the 3β-hydroxysteroid ?24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 69:685-694
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- Waterham, H.R.¹ Koster, J.²

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