-
1
-
-
0014192543
-
14C-labelled phytol and phytanic acid by the intestine of the rat studied with thoracic duct cannulation
-
14C-labelled phytol and phytanic acid by the intestine of the rat studied with thoracic duct cannulation. Biochim Biophys Acta 132: 277-281.
-
(1967)
Biochim Biophys Acta
, vol.132
, pp. 277-281
-
-
Baxter, J.H.1
Steinberg, D.2
Mize, C.E.3
Avignan, J.4
-
2
-
-
0024349062
-
The significance of plasma phytanic acid levels in adults
-
Britton TC, Gibberd FB, Clemens ME, Billimoria JD, Sidey MC (1989) The significance of plasma phytanic acid levels in adults. J Neurol Neurosurg Psychiatry 52: 891-894.
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 891-894
-
-
Britton, T.C.1
Gibberd, F.B.2
Clemens, M.E.3
Billimoria, J.D.4
Sidey, M.C.5
-
3
-
-
0027203836
-
Diet and Refsum's disease: The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the convenience foods for patients with Refsum's disease
-
Brown PJ, Mei G, Gibberd FB, et al (1993) Diet and Refsum's disease: The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the convenience foods for patients with Refsum's disease. J Hum Nutr Diet 6: 295-305.
-
(1993)
J Hum Nutr Diet
, vol.6
, pp. 295-305
-
-
Brown, P.J.1
Mei, G.2
Gibberd, F.B.3
-
4
-
-
0029662167
-
2, cofactor requirements, subcellular organisation and formation of 2-hydroxy-3-methylacyl-CoA intermediate
-
2, cofactor requirements, subcellular organisation and formation of 2-hydroxy-3-methylacyl-CoA intermediate. Eur J Biochem 240: 674-683.
-
(1996)
Eur J Biochem
, vol.240
, pp. 674-683
-
-
Croes, K.1
Casteels, M.2
De Hoffman, E.3
Mannaerts, G.P.4
Van Veldhoeven, P.P.5
-
5
-
-
0015520596
-
Differential susceptibility of phytanyl and palmityl ester bonds to enzymatic hydrolysis
-
Ellingboe J, Steinberg D (1972) Differential susceptibility of phytanyl and palmityl ester bonds to enzymatic hydrolysis. Biochim Biophys Acta 270: 92-94.
-
(1972)
Biochim Biophys Acta
, vol.270
, pp. 92-94
-
-
Ellingboe, J.1
Steinberg, D.2
-
6
-
-
0028887870
-
Molecular physiology of reverse cholesterol transport
-
Fielding CJ, Fielding PE (1995) Molecular physiology of reverse cholesterol transport. J Lipid Res 36: 211-228.
-
(1995)
J Lipid Res
, vol.36
, pp. 211-228
-
-
Fielding, C.J.1
Fielding, P.E.2
-
8
-
-
0022256042
-
Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease)
-
Goldman JM, Clemens ME, Gibberd FB, Billimoria JD (1985) Screening of patients with retinitis pigmentosa for heredopathia atactica polyneuritiformis (Refsum's disease). Br Med J 290: 1109-1110.
-
(1985)
Br Med J
, vol.290
, pp. 1109-1110
-
-
Goldman, J.M.1
Clemens, M.E.2
Gibberd, F.B.3
Billimoria, J.D.4
-
9
-
-
0025856862
-
Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis)
-
Harari D, Gibberd FB, Dick JR, Sidey MU (1991) Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis). J Neurol Neurosurg Psychiatry 54: 614-617.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 614-617
-
-
Harari, D.1
Gibberd, F.B.2
Dick, J.R.3
Sidey, M.U.4
-
10
-
-
0030745425
-
Phytanoyl-coenzyme a hydroxylase deficiency - The enzyme defect in Refsum's disease
-
Jansen GA, Wanders RJ, Wtakins PA, Mihalik SJ (1997a) Phytanoyl-coenzyme A hydroxylase deficiency - the enzyme defect in Refsum's disease. N Engl J Med 337: 133-134.
-
(1997)
N Engl J Med
, vol.337
, pp. 133-134
-
-
Jansen, G.A.1
Wanders, R.J.2
Wtakins, P.A.3
Mihalik, S.J.4
-
11
-
-
84984777129
-
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
-
Jansen GA, Ofman R, Ferdinandusse S, et al (1997b) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genetics 17: 190-193.
-
(1997)
Nature Genetics
, vol.17
, pp. 190-193
-
-
Jansen, G.A.1
Ofman, R.2
Ferdinandusse, S.3
-
12
-
-
0014663247
-
Repartition des esters phytaniques parmi les triglycerides plasmatiques de cinq patients atteints de maladie de Refsum: Etude par chromatographie en couche mince
-
Laudat P, Wolf L-M (1969) Repartition des esters phytaniques parmi les triglycerides plasmatiques de cinq patients atteints de maladie de Refsum: etude par chromatographie en couche mince. Biochim Biophys Acta 176: 245-247.
-
(1969)
Biochim Biophys Acta
, vol.176
, pp. 245-247
-
-
Laudat, P.1
Wolf, L.-M.2
-
13
-
-
0014408281
-
The action of lipoprotein lipase on glycerly triphytanate
-
Laurell S (1968) The action of lipoprotein lipase on glycerly triphytanate. Biochim Biophys Acta 152: 80-82.
-
(1968)
Biochim Biophys Acta
, vol.152
, pp. 80-82
-
-
Laurell, S.1
-
14
-
-
0014408199
-
Separation and characterisation of phytanic acid containing plasma triglycerides from the serum of a patient with Refsum's disease
-
Laurell S (1978) Separation and characterisation of phytanic acid containing plasma triglycerides from the serum of a patient with Refsum's disease. Biochim Biophys Acta 152: 75-79.
-
(1978)
Biochim Biophys Acta
, vol.152
, pp. 75-79
-
-
Laurell, S.1
-
15
-
-
84984767118
-
Identification of PAHX, a Refsum disease gene
-
Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ (1997) Identification of PAHX, a Refsum disease gene. Nature Genetics 17: 185-189.
-
(1997)
Nature Genetics
, vol.17
, pp. 185-189
-
-
Mihalik, S.J.1
Morrell, J.C.2
Kim, D.3
Sacksteder, K.A.4
Watkins, P.A.5
Gould, S.J.6
-
16
-
-
0018790404
-
Di-, mono- And non-phytanoyl triglycerides in the serum: A sensitive parameter of the phytanic acid accumulation in Refsum's disease
-
Molzer B, Bernheimer H, Barlolin GS, Hofinger E, Lenz H (1979) Di-, mono- and non-phytanoyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease. Clin Chim Acta 91: 133-137.
-
(1979)
Clin Chim Acta
, vol.91
, pp. 133-137
-
-
Molzer, B.1
Bernheimer, H.2
Barlolin, G.S.3
Hofinger, E.4
Lenz, H.5
-
18
-
-
0001293272
-
Refsum disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Steinberg D (1995) Refsum disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2351-2369.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2351-2369
-
-
Steinberg, D.1
-
19
-
-
0031559604
-
Resolution of the phytanic acid alpha-oxidation pathway: Identification of pristanal as the product of the decarboxylation of 2-hydroxy-phytanoyl-CoA
-
Verhoeven NM, Schor DS, ten Brink HJ, Wanders RJ, Jacobs C (1997a) Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as the product of the decarboxylation of 2-hydroxy-phytanoyl-CoA. Biochem Biophys Res Commun 237: 33-36.
-
(1997)
Biochem Biophys Res Commun
, vol.237
, pp. 33-36
-
-
Verhoeven, N.M.1
Schor, D.S.2
Ten Brink, H.J.3
Wanders, R.J.4
Jacobs, C.5
-
20
-
-
0030800266
-
Stable isotope studies of phytanic acid alpha-oxidation: In vivo production of formic acid
-
Verhoeven NM, Schor DS, Previs SF, Brunengraber H, Jacobs C (1997b) Stable isotope studies of phytanic acid alpha-oxidation: in vivo production of formic acid. Eur J Paediatr 156 (Supplement 1): S83-87.
-
(1997)
Eur J Paediatr
, vol.156
, Issue.1 SUPPL.
-
-
Verhoeven, N.M.1
Schor, D.S.2
Previs, S.F.3
Brunengraber, H.4
Jacobs, C.5
-
21
-
-
0030707782
-
Phytanic acid alpha-oxidation in peroxisomal disorders: Studies in cultured human fibroblasts
-
Verhoeven NM, Schor DS, Roe CR, Wanders RJ, Jacobs C (1997c) Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts. Biochim Biophys Acta 1361: 281-286.
-
(1997)
Biochim Biophys Acta
, vol.1361
, pp. 281-286
-
-
Verhoeven, N.M.1
Schor, D.S.2
Roe, C.R.3
Wanders, R.J.4
Jacobs, C.5
-
22
-
-
0030725292
-
Phytanic acid alpha oxidation: Decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver
-
Verhoeven NM, Wanders RJ, Schor DS, Jansen GA, Jacobs C (1997d) Phytanic acid alpha oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver. J Lipid Res 38: 2062-2070.
-
(1997)
J Lipid Res
, vol.38
, pp. 2062-2070
-
-
Verhoeven, N.M.1
Wanders, R.J.2
Schor, D.S.3
Jansen, G.A.4
Jacobs, C.5
-
23
-
-
0023127141
-
Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease
-
Yao JK, Dyck PJ (1987) Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease. Lipids 22: 69-75.
-
(1987)
Lipids
, vol.22
, pp. 69-75
-
-
Yao, J.K.1
Dyck, P.J.2
|