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Volumn 71, Issue 1 SUPPL., 2000, Pages

Therapeutic effects of docosahexaenoic acid ethyl ester in patients with generalized peroxisomal disorders

Author keywords

Docosahexaenoic acid; Magnetic resonance imaging; Peroxisomal disorders; Plasmalogens; Very long chain fatty acids; Zellweger syndrome

Indexed keywords

DOCOSAHEXAENOIC ACID; PLASMALOGEN; VERY LONG CHAIN FATTY ACID;

EID: 0033964508     PISSN: 00029165     EISSN: None     Source Type: Journal    
DOI: 10.1093/ajcn/71.1.376s     Document Type: Conference Paper
Times cited : (101)

References (37)
  • 2
    • 0013897667 scopus 로고
    • Peroxisomes (microbodies and related particles)
    • De Duve C, Baudhuin P. Peroxisomes (microbodies and related particles). Physiol Rev 1966;46:323-57.
    • (1966) Physiol Rev , vol.46 , pp. 323-357
    • De Duve, C.1    Baudhuin, P.2
  • 3
    • 0015848845 scopus 로고
    • Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
    • Goldfischer S, Moore CL, Johnson AB, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973:182:62-4.
    • (1973) Science , vol.182 , pp. 62-64
    • Goldfischer, S.1    Moore, C.L.2    Johnson, A.B.3
  • 4
  • 5
    • 0344803532 scopus 로고
    • Lignoceric acid is oxidized in the peroxisome: Implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy
    • Singh I, Moser AB, Goldfischer S, et al. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A 1984:81:4203-7.
    • (1984) Proc Natl Acad Sci U S A , vol.81 , pp. 4203-4207
    • Singh, I.1    Moser, A.B.2    Goldfischer, S.3
  • 6
    • 0023492550 scopus 로고
    • Peroxisomal fatty acid β-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders
    • Wanders RJA, van Roermund CWT, van Wijland MJA, et al. Peroxisomal fatty acid β-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. J Clin Invest 1987;80:1778-83.
    • (1987) J Clin Invest , vol.80 , pp. 1778-1783
    • Wanders, R.J.A.1    Van Roermund, C.W.T.2    Van Wijland, M.J.A.3
  • 7
    • 0000228425 scopus 로고
    • Disorders of peroxisome biogenesis
    • Scriver CR, Beaudet AL, Sly WS, Valle D, ed. New York: McGraw-Hill
    • Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, ed. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1995: 2287-324.
    • (1995) The Metabolic Basis of Inherited Disease. 6th Ed. , pp. 2287-2324
    • Lazarow, P.B.1    Moser, H.W.2
  • 8
    • 0027369118 scopus 로고
    • Refsum disease: A defect in the α-oxidation of phytanic acid in peroxisomes
    • Sing H, Pahan K, Singh K, et al. Refsum disease: a defect in the α-oxidation of phytanic acid in peroxisomes. J Lipid Res 1993;34: 1755-64.
    • (1993) J Lipid Res , vol.34 , pp. 1755-1764
    • Sing, H.1    Pahan, K.2    Singh, K.3
  • 9
    • 0020002346 scopus 로고
    • Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetonephosphate pathway
    • Hajra AK, Bishop JE. Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetonephosphate pathway. Ann N Y Acad Sci 1982;386:170-82.
    • (1982) Ann N Y Acad Sci , vol.386 , pp. 170-182
    • Hajra, A.K.1    Bishop, J.E.2
  • 10
    • 0021265709 scopus 로고
    • The cerebro-hepato-renal (Zellweger) syndrome: Increased levels and impaired degradation of very long chain fatty acids and their usein prenatal diagnosis
    • Moser AB, Singh I, Brown FR III, et al. The cerebro-hepato-renal (Zellweger) syndrome: increased levels and impaired degradation of very long chain fatty acids and their usein prenatal diagnosis. N Engl J Med 1984;310:1141-6.
    • (1984) N Engl J Med , vol.310 , pp. 1141-1146
    • Moser, A.B.1    Singh, I.2    Brown F.R. III3
  • 11
    • 0021340429 scopus 로고
    • Serum very long chain fatty acid pattern in Zellweger syndrome
    • Bakkeren JA, Monnens LAH, Trijbels JMF, et al. Serum very long chain fatty acid pattern in Zellweger syndrome. Clin Chim Acta 1984;138:325-30.
    • (1984) Clin Chim Acta , vol.138 , pp. 325-330
    • Bakkeren, J.A.1    Monnens, L.A.H.2    Trijbels, J.M.F.3
  • 12
    • 0020574070 scopus 로고
    • Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
    • Heymans HSA, Schutgens RBH, Tan R, et al. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 1983;306:69-70.
    • (1983) Nature , vol.306 , pp. 69-70
    • Heymans, H.S.A.1    Schutgens, R.B.H.2    Tan, R.3
  • 13
    • 0021132819 scopus 로고
    • Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome
    • Datta NS, Wilson GN, Hajra AK. Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. N Engl J Med 1984;311:1080-3.
    • (1984) N Engl J Med , vol.311 , pp. 1080-1083
    • Datta, N.S.1    Wilson, G.N.2    Hajra, A.K.3
  • 14
    • 0022490924 scopus 로고
    • Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals
    • Bjorkhem I, Sisfontes L, Bostrom B, et al. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J Lipid Res 1986;27:786-91.
    • (1986) J Lipid Res , vol.27 , pp. 786-791
    • Bjorkhem, I.1    Sisfontes, L.2    Bostrom, B.3
  • 15
    • 0021858767 scopus 로고
    • Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase
    • Poulos A, Sharp P, Fellenberg AJ, et al. Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. Hum Genet 1985;70:172-7.
    • (1985) Hum Genet , vol.70 , pp. 172-177
    • Poulos, A.1    Sharp, P.2    Fellenberg, A.J.3
  • 16
    • 0022610977 scopus 로고
    • Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunction
    • Poll-The BT, Saudubray JM, Ogier H, et al. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis 1986;9:169-74.
    • (1986) J Inherit Metab Dis , vol.9 , pp. 169-174
    • Poll-The, B.T.1    Saudubray, J.M.2    Ogier, H.3
  • 17
    • 0018425622 scopus 로고
    • Defects of bile acids synthesis in Zellweger's syndrome
    • Hanson RF, Szczepanik-van Leeuwen P, Williams GC, et al. Defects of bile acids synthesis in Zellweger's syndrome. Science 1979; 203:1107-8.
    • (1979) Science , vol.203 , pp. 1107-1108
    • Hanson, R.F.1    Szczepanik-van Leeuwen, P.2    Williams, G.C.3
  • 18
    • 0019963317 scopus 로고
    • Neonatal adrenoleukodystrophy: Clinical, pathological, and biochemical delineation of a syndrome affecting both males and females
    • Jaffe R, Crumrine P, Hashida Y, et al. Neonatal adrenoleukodystrophy: clinical, pathological, and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 1982;108:100-11.
    • (1982) Am J Pathol , vol.108 , pp. 100-111
    • Jaffe, R.1    Crumrine, P.2    Hashida, Y.3
  • 19
    • 0019966135 scopus 로고
    • Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases including ultrastructural studies of the liver
    • Scotto JM, Hadchouel M, Odièvre M, et al. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases including ultrastructural studies of the liver. J Inherit Metab Dis 1982;5:83-90.
    • (1982) J Inherit Metab Dis , vol.5 , pp. 83-90
    • Scotto, J.M.1    Hadchouel, M.2    Odièvre, M.3
  • 20
    • 0023158322 scopus 로고
    • A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients
    • Moser AB, Borel J, Odone A, et al. A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients. Ann Neurol 1987;21:240-9.
    • (1987) Ann Neurol , vol.21 , pp. 240-249
    • Moser, A.B.1    Borel, J.2    Odone, A.3
  • 21
    • 0026742469 scopus 로고
    • Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis
    • Smeitink JMA, Beemer FA, Speel M, et al. Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis. J Inherit Metab Dis 1992;15:377-80.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 377-380
    • Smeitink, J.M.A.1    Beemer, F.A.2    Speel, M.3
  • 22
    • 0022531459 scopus 로고
    • Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy
    • Wilson GN, Holmes RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 1986;24:69-82.
    • (1986) Am J Med Genet , vol.24 , pp. 69-82
    • Wilson, G.N.1    Holmes, R.G.2    Custer, J.3
  • 23
    • 0026571062 scopus 로고
    • Oral bile acid treatment and the patient with Zellweger syndrome
    • Setchell KDR, Bragetti P, Zimmer-Nechemias L, et al. Oral bile acid treatment and the patient with Zellweger syndrome. Hepatology 1992;15:198-207.
    • (1992) Hepatology , vol.15 , pp. 198-207
    • Setchell, K.D.R.1    Bragetti, P.2    Zimmer-Nechemias, L.3
  • 24
    • 0024507789 scopus 로고
    • Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger syndrome
    • Martinez M. Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger syndrome. Lipids 1989;24:261-5.
    • (1989) Lipids , vol.24 , pp. 261-265
    • Martinez, M.1
  • 25
    • 0025039469 scopus 로고
    • Severe deficiency of docosahexaenoic acid in peroxisomal disorders: A defect of D4 desaturation?
    • Martinez M. Severe deficiency of docosahexaenoic acid in peroxisomal disorders: a defect of D4 desaturation? Neurology 1990;40:1292-8.
    • (1990) Neurology , vol.40 , pp. 1292-1298
    • Martinez, M.1
  • 26
    • 0026715768 scopus 로고
    • Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders
    • Martinez M. Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res 1992;583:171-82.
    • (1992) Brain Res , vol.583 , pp. 171-182
    • Martinez, M.1
  • 28
    • 0029205479 scopus 로고
    • The nervous system has an absolute molecular species requirement for proper function
    • Salem N Jr, Niebylski CD. The nervous system has an absolute molecular species requirement for proper function. Mol Membr Biol 1995;12:131-4.
    • (1995) Mol Membr Biol , vol.12 , pp. 131-134
    • Salem N., Jr.1    Niebylski, C.D.2
  • 29
    • 0027319874 scopus 로고
    • Docosahexaenoic acid - A new therapeutic approach to peroxisomal-disorder patients: Experience with two cases
    • Martinez M, Pineda M, Vidal R, et al. Docosahexaenoic acid - a new therapeutic approach to peroxisomal-disorder patients: experience with two cases. Neurology 1993;43:1389-97.
    • (1993) Neurology , vol.43 , pp. 1389-1397
    • Martinez, M.1    Pineda, M.2    Vidal, R.3
  • 30
    • 0029584553 scopus 로고
    • Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: Therapeutic implications
    • Martinez M. Polyunsaturated fatty acids in the developing human brain, erythrocytes and plasma in peroxisomal disease: therapeutic implications. J Inherit Metab Dis 1995;18(suppl):61-75.
    • (1995) J Inherit Metab Dis , vol.18 , Issue.SUPPL. , pp. 61-75
    • Martinez, M.1
  • 31
    • 0029912369 scopus 로고    scopus 로고
    • Docosahexaenoic acid therapy in DHA-deficient patients with disorders of peroxisomal biogenesis
    • Martinez M. Docosahexaenoic acid therapy in DHA-deficient patients with disorders of peroxisomal biogenesis. Lipids 1996;31:S145-52.
    • (1996) Lipids , vol.31
    • Martinez, M.1
  • 32
    • 0031869030 scopus 로고    scopus 로고
    • Treatment with docosahexaenoic acid ethyl ester improves myelination in patients with generalized peroxisomal disorders
    • Martinez M, Vázquez L. Treatment with docosahexaenoic acid ethyl ester improves myelination in patients with generalized peroxisomal disorders. Neurology 1998;51:26-32.
    • (1998) Neurology , vol.51 , pp. 26-32
    • Martinez, M.1    Vázquez, L.2
  • 33
    • 0342743782 scopus 로고
    • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
    • Moser A, Rasmussen M, Naidu S, et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 1995;125:755-67.
    • (1995) J Pediatr , vol.125 , pp. 755-767
    • Moser, A.1    Rasmussen, M.2    Naidu, S.3
  • 34
    • 0022548964 scopus 로고
    • Direct transesterification of all classes of lipids in a one-step reaction
    • Lepage G, Roy CC. Direct transesterification of all classes of lipids in a one-step reaction. J Lipid Res 1986;27:114-20.
    • (1986) J Lipid Res , vol.27 , pp. 114-120
    • Lepage, G.1    Roy, C.C.2
  • 35
    • 0028293574 scopus 로고
    • Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study
    • Martinez M, Mougan I, Roig M, et al. Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study. Lipids 1994;29:273-80.
    • (1994) Lipids , vol.29 , pp. 273-280
    • Martinez, M.1    Mougan, I.2    Roig, M.3
  • 36
    • 0022803343 scopus 로고
    • A comparison of pyrrolidide and picolinyl ester derivatives for the identification of fatty acids in natural samples by gas chromatography-mass spectrometry
    • Christie WW, Brechany EY, Johnson SB, et al. A comparison of pyrrolidide and picolinyl ester derivatives for the identification of fatty acids in natural samples by gas chromatography-mass spectrometry. Lipids 1986;21:657-61.
    • (1986) Lipids , vol.21 , pp. 657-661
    • Christie, W.W.1    Brechany, E.Y.2    Johnson, S.B.3
  • 37
    • 0025841905 scopus 로고
    • The metabolism of 7,10,13,16,19-docosapentaenoic acid to 4,7,10,13,16,19-docosahexaenoic acid in rat liver is independent of a 4-desaturase
    • Voss A, Reinhart M, Sankarappa S, et al. The metabolism of 7,10,13,16,19-docosapentaenoic acid to 4,7,10,13,16,19-docosahexaenoic acid in rat liver is independent of a 4-desaturase. J Biol Chem 1991;266:19995-20000.
    • (1991) J Biol Chem , vol.266 , pp. 19995-20000
    • Voss, A.1    Reinhart, M.2    Sankarappa, S.3


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