-
1
-
-
0024962796
-
Refsum's syndrome. Heredopathia atactica polyneuritis
-
Brandt NJ, Christensen E, Rosenberg T (1989) Refsum's syndrome. Heredopathia atactica polyneuritis. Ugeskr Laeger 151: 368-371.
-
(1989)
Ugeskr Laeger
, vol.151
, pp. 368-371
-
-
Brandt, N.J.1
Christensen, E.2
Rosenberg, T.3
-
2
-
-
0028817372
-
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
-
Dodt G, Braverman N, Wong C, et al (1995) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet 9: 115-125.
-
(1995)
Nature Genet
, vol.9
, pp. 115-125
-
-
Dodt, G.1
Braverman, N.2
Wong, C.3
-
3
-
-
0022626531
-
Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities
-
Goldfischer S, Collins J, Rapin I, et al (1986) Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activities. J Pediatr 108: 25-32.
-
(1986)
J Pediatr
, vol.108
, pp. 25-32
-
-
Goldfischer, S.1
Collins, J.2
Rapin, I.3
-
4
-
-
0029153135
-
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
-
Moser AB, Rasmussen M, Naidu S, et al (1995) Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 127: 13-22.
-
(1995)
J Pediatr
, vol.127
, pp. 13-22
-
-
Moser, A.B.1
Rasmussen, M.2
Naidu, S.3
-
5
-
-
0028171084
-
Peroxisomal β-oxidation: Purification of four novel 3-hydroxyacyl-CoA dehydrogenases from rat liver peroxisomes
-
Novikov DK, Vanhove GF, Carchon F, et al (1994) Peroxisomal β-oxidation: Purification of four novel 3-hydroxyacyl-CoA dehydrogenases from rat liver peroxisomes. J Biol Chem 269: 27125-27135.
-
(1994)
J Biol Chem
, vol.269
, pp. 27125-27135
-
-
Novikov, D.K.1
Vanhove, G.F.2
Carchon, F.3
-
6
-
-
0023878166
-
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
-
Poll-The BT, Roels F, Ogier H, et al (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 42: 422-434.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 422-434
-
-
Poll-The, B.T.1
Roels, F.2
Ogier, H.3
-
8
-
-
0026523576
-
A human gene responsible for Zellweger syndrome that effects peroxisome assembly
-
Shimozawa N, Tsukamoto T, Suzuki Y, et al (1992) A human gene responsible for Zellweger syndrome that effects peroxisome assembly. Science 255: 1332-1334.
-
(1992)
Science
, vol.255
, pp. 1332-1334
-
-
Shimozawa, N.1
Tsukamoto, T.2
Suzuki, Y.3
-
9
-
-
0027433568
-
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect
-
Shimozawa N, Suzuki Y, Orii T, Moser A, Moser HW, Wanders RJA (1993) Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect [Letter]. Am J Hum Genet 52: 843-844.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 843-844
-
-
Shimozawa, N.1
Suzuki, Y.2
Orii, T.3
Moser, A.4
Moser, H.W.5
Wanders, R.J.A.6
-
10
-
-
0024470250
-
Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography
-
Stellaard F, Langelaar SA, Kok RM, Jakobs C (1989) Determination of plasma bile acids by capillary gas-liquid chromatography-electron capture negative chemical ionization mass fragmentography. J Lipid Res 30: 1647-1652.
-
(1989)
J Lipid Res
, vol.30
, pp. 1647-1652
-
-
Stellaard, F.1
Langelaar, S.A.2
Kok, R.M.3
Jakobs, C.4
-
11
-
-
0025163251
-
Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography
-
Stellaard F, ten Brink HJ, Kok RM, van den Heuvel L, Jakobs C (1990) Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography. Clin Chim Acta 192: 133-144.
-
(1990)
Clin Chim Acta
, vol.192
, pp. 133-144
-
-
Stellaard, F.1
Ten Brink, H.J.2
Kok, R.M.3
Van Den Heuvel, L.4
Jakobs, C.5
-
12
-
-
0028107213
-
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: Identification by means of complementation analysis
-
Suzuki Y, Shimozawa N, Yajima S, et al (1994) Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Am J Hum Genet 54: 36-43.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 36-43
-
-
Suzuki, Y.1
Shimozawa, N.2
Yajima, S.3
-
13
-
-
0026528902
-
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: Stable isotope dilution analysis with electron capture negative ion mass fragmentography
-
ten Brink HJ, Stellaard F, van den Heuvel CMM, et al (1992) Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res 33: 41-41.
-
(1992)
J Lipid Res
, vol.33
, pp. 41-41
-
-
Ten Brink, H.J.1
Stellaard, F.2
Van Cmm, D.H.3
-
14
-
-
0027159784
-
The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- And trihydroxycoprostanoic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney
-
Vanhove GF, Van Veldhoven PP, Fransen M, Denis S, Wanders RJA, Mannaerts GP (1993) The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanoic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney. J Biol Chem 268: 10335-10344.
-
(1993)
J Biol Chem
, vol.268
, pp. 10335-10344
-
-
Vanhove, G.F.1
Van Veldhoven, P.P.2
Fransen, M.3
Denis, S.4
Wanders, R.J.A.5
Mannaerts, G.P.6
-
16
-
-
0029558378
-
Measurement of dihydroxyacetonephosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
-
Wanders RJA, Ofman R, Romeijer GJ, et al (1995b) Measurement of dihydroxyacetonephosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. J Inher Metab Dis 18 (supplement 1): 90-100.
-
(1995)
J Inher Metab Dis
, vol.18
, Issue.1 SUPPL.
, pp. 90-100
-
-
Wanders, R.J.A.1
Ofman, R.2
Romeijer, G.J.3
-
17
-
-
0029593424
-
Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts
-
Wanders RJA, Denis S, Ruiter JPN, Schutgens RBH, van Roermund CWT, Jacobs BS (1995c) Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts. J Inher Metab Dis 18 (supplement 1): 113-124.
-
(1995)
J Inher Metab Dis
, vol.18
, Issue.1 SUPPL.
, pp. 113-124
-
-
Wanders, R.J.A.1
Denis, S.2
Ruiter, J.P.N.3
Schutgens, R.B.H.4
Van Roermund, C.W.T.5
Jacobs, B.S.6
-
18
-
-
0029610565
-
Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients
-
Wanders RJA, Dekker C, Ofman R, Schutgens RBH, Mooijer P (1995d) Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients. J Inher Metab Dis 18 (supplement 1): 101-112.
-
(1995)
J Inher Metab Dis
, vol.18
, Issue.1 SUPPL.
, pp. 101-112
-
-
Wanders, R.J.A.1
Dekker, C.2
Ofman, R.3
Schutgens, R.B.H.4
Mooijer, P.5
|