-
2
-
-
0021871792
-
The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma
-
Aubourg P., Robain O., Rocchiccioli F., et al. The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. J Neurol Sci 1985, 69:9-25.
-
(1985)
J Neurol Sci
, vol.69
, pp. 9-25
-
-
Aubourg, P.1
Robain, O.2
Rocchiccioli, F.3
-
4
-
-
0025329012
-
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow trans-plantation
-
Aubourg P., Blanche S., Jambaqué I., et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow trans-plantation. N Engl J Med 1990, 322:1860-1866.
-
(1990)
N Engl J Med
, vol.322
, pp. 1860-1866
-
-
Aubourg, P.1
Blanche, S.2
Jambaqué, I.3
-
5
-
-
33645837817
-
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
-
Bams-Mengerink A.M., Majoie C.B., Duran M., et al. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 2006, 66:798-803.
-
(2006)
Neurology
, vol.66
, pp. 798-803
-
-
Bams-Mengerink, A.M.1
Majoie, C.B.2
Duran, M.3
-
7
-
-
0031737638
-
Clinical approach to inherited peroxisomal disorders: a series of 27 patients
-
Baumgartner M.R., Poll-The B.T., Verhoeven N.M., et al. Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol 1998, 44:720-730.
-
(1998)
Ann Neurol
, vol.44
, pp. 720-730
-
-
Baumgartner, M.R.1
Poll-The, B.T.2
Verhoeven, N.M.3
-
8
-
-
33845313979
-
X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects
-
Berger J., Gartner J. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 2006, 1763:1721-1732.
-
(2006)
Biochim Biophys Acta
, vol.1763
, pp. 1721-1732
-
-
Berger, J.1
Gartner, J.2
-
9
-
-
70449427834
-
Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy
-
Cartier N., Hacein-Bey-Abina S., Bartholomae C.C., et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009, 326:818-823.
-
(2009)
Science
, vol.326
, pp. 818-823
-
-
Cartier, N.1
Hacein-Bey-Abina, S.2
Bartholomae, C.C.3
-
10
-
-
3242705763
-
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency
-
Clarke C.E., Alger S., Preece M.A., et al. Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. Neurology 2004, 63:188-189.
-
(2004)
Neurology
, vol.63
, pp. 188-189
-
-
Clarke, C.E.1
Alger, S.2
Preece, M.A.3
-
11
-
-
0032995794
-
The neurobiology of X-linked adrenoleukodystrophy (ALD), a demyelinating peroxisomal disorder
-
Dubois-Dalcq M., Feigenbaum V., Aubourg P. The neurobiology of X-linked adrenoleukodystrophy (ALD), a demyelinating peroxisomal disorder. Trends Neurosci 1999, 22:4-12.
-
(1999)
Trends Neurosci
, vol.22
, pp. 4-12
-
-
Dubois-Dalcq, M.1
Feigenbaum, V.2
Aubourg, P.3
-
12
-
-
46749133930
-
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
-
Eichler F.S., Ren J.Q., Cossoy M., et al. Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?. Ann Neurol 2008, 63:729-742.
-
(2008)
Ann Neurol
, vol.63
, pp. 729-742
-
-
Eichler, F.S.1
Ren, J.Q.2
Cossoy, M.3
-
13
-
-
0033973970
-
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
-
Ferdinandusse S., Denis S., Clayton P.T., et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 2000, 24:188-191.
-
(2000)
Nat Genet
, vol.24
, pp. 188-191
-
-
Ferdinandusse, S.1
Denis, S.2
Clayton, P.T.3
-
14
-
-
29944445799
-
Clinical and biochemical spectrum of D-bifunctional protein deficiency
-
Ferdinandusse S., Denis S., Mooyer P.A., et al. Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol 2006, 59:92-104.
-
(2006)
Ann Neurol
, vol.59
, pp. 92-104
-
-
Ferdinandusse, S.1
Denis, S.2
Mooyer, P.A.3
-
15
-
-
33646885229
-
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy
-
Ferdinandusse S., Kostopoulos P., Denis S., et al. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet 2006, 78:1046-1052.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1046-1052
-
-
Ferdinandusse, S.1
Kostopoulos, P.2
Denis, S.3
-
16
-
-
34848897852
-
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
-
Ferdinandusse S., Denis S., Hogenhout E.M., et al. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat 2007, 28:904-912.
-
(2007)
Hum Mutat
, vol.28
, pp. 904-912
-
-
Ferdinandusse, S.1
Denis, S.2
Hogenhout, E.M.3
-
17
-
-
77649154711
-
Adult peroxisomal acyl-CoA oxidase deficiency with cerebellar and brainstem atrophy
-
Ferdinandusse S., Barker S., Lachlan K., et al. Adult peroxisomal acyl-CoA oxidase deficiency with cerebellar and brainstem atrophy. J Neurol Neurosurg Psychiatry 2009, 81:310-312.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 310-312
-
-
Ferdinandusse, S.1
Barker, S.2
Lachlan, K.3
-
18
-
-
44849100253
-
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
-
Fourcade S., López-Erauskin J., Galino J., et al. Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy. Hum Mol Genet 2008, 17:1762-1773.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1762-1773
-
-
Fourcade, S.1
López-Erauskin, J.2
Galino, J.3
-
19
-
-
0020458984
-
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients
-
Govaerts L., Monnens L., Tegelaers W., et al. Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients. Eur J Pediatr 1982, 139:125-128.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 125-128
-
-
Govaerts, L.1
Monnens, L.2
Tegelaers, W.3
-
20
-
-
33947510993
-
Phenotype of adult Refsum disease due to a defect in peroxin
-
Horn M.A., van den Brink D.M., Wanders R.J., et al. Phenotype of adult Refsum disease due to a defect in peroxin. Neurology 2007, 68:698-700.
-
(2007)
Neurology
, vol.68
, pp. 698-700
-
-
Horn, M.A.1
van den Brink, D.M.2
Wanders, R.J.3
-
21
-
-
84984777129
-
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gen
-
Jansen G.A., Ofman R., Ferdinandusse S., et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gen. Nat Genet 1997, 17:190-193.
-
(1997)
Nat Genet
, vol.17
, pp. 190-193
-
-
Jansen, G.A.1
Ofman, R.2
Ferdinandusse, S.3
-
22
-
-
34547527078
-
Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes
-
Kassmann C.M., Lappe-Siefke C., Baes M., et al. Axonal loss and neuroinflammation caused by peroxisome-deficient oligodendrocytes. Nat Genet 2007, 39:969-976.
-
(2007)
Nat Genet
, vol.39
, pp. 969-976
-
-
Kassmann, C.M.1
Lappe-Siefke, C.2
Baes, M.3
-
23
-
-
0022480922
-
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes
-
Kelley R.I., Datta N.S., Dobyns W.B., et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet 1986, 23:869-901.
-
(1986)
Am J Med Genet
, vol.23
, pp. 869-901
-
-
Kelley, R.I.1
Datta, N.S.2
Dobyns, W.B.3
-
24
-
-
12844267552
-
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
-
Kemp S., Valianpour F., Denis S., et al. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy. Mol Genet Metab 2005, 84:144-151.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 144-151
-
-
Kemp, S.1
Valianpour, F.2
Denis, S.3
-
26
-
-
0036178209
-
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
-
Motley A.M., Brites P., Gerez L., et al. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 2002, 70:612-624.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 612-624
-
-
Motley, A.M.1
Brites, P.2
Gerez, L.3
-
27
-
-
0031897918
-
Acyl-CoA-dihydroxyacetonephosphate acyltransferase-cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
-
Ofman R., Hettema E.H., Hogenhout E.M., et al. Acyl-CoA-dihydroxyacetonephosphate acyltransferase-cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet 1998, 7:847-853.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 847-853
-
-
Ofman, R.1
Hettema, E.H.2
Hogenhout, E.M.3
-
29
-
-
0023582841
-
Infantile Refsum disease: an inherited peroxisomal disorder - comparison with Zellweger syndrome and neonatal adrenoleukodystrophy
-
Poll-The B.T., Saudubray J.M., Ogier H.A.M., et al. Infantile Refsum disease: an inherited peroxisomal disorder - comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur J Pediatr 1987, 146:477-483.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 477-483
-
-
Poll-The, B.T.1
Saudubray, J.M.2
Ogier, H.A.M.3
-
30
-
-
2142751027
-
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
-
Poll-The B.T., Gootjes J., Duran M., et al. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet 2004, 126:333-338.
-
(2004)
Am J Med Genet
, vol.126
, pp. 333-338
-
-
Poll-The, B.T.1
Gootjes, J.2
Duran, M.3
-
31
-
-
0034718378
-
Long-term beneficial effect of bone marrow transplantation for childhood onset cerebral X-linked adrenoleukodystrophy
-
Shapiro E., Krivit W., Lockman L., et al. Long-term beneficial effect of bone marrow transplantation for childhood onset cerebral X-linked adrenoleukodystrophy. Lancet 2000, 356:713-718.
-
(2000)
Lancet
, vol.356
, pp. 713-718
-
-
Shapiro, E.1
Krivit, W.2
Lockman, L.3
-
33
-
-
41149126674
-
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency
-
Thompson S.A., Calvin J., Hogg S., et al. Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. J Neurol Neurosurg Psychiatry 2008, 79:448-450.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 448-450
-
-
Thompson, S.A.1
Calvin, J.2
Hogg, S.3
-
34
-
-
33747106226
-
Phytanic acid: production from phytol, its breakdown and role in human disease
-
van den Brink D.M., Wanders R.J. Phytanic acid: production from phytol, its breakdown and role in human disease. Cell Mol Life Sci 2006, 63:1752-1765.
-
(2006)
Cell Mol Life Sci
, vol.63
, pp. 1752-1765
-
-
van den Brink, D.M.1
Wanders, R.J.2
-
35
-
-
0032816205
-
Enoyl-CoA hydratase deficiency: identification of an new type of D-bifunctional protein deficiency
-
van Grunsven E.G., Mooijer P.A.W., Aubourg P., et al. Enoyl-CoA hydratase deficiency: identification of an new type of D-bifunctional protein deficiency. Hum Mol Genet 1999, 8:1509-1516.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1509-1516
-
-
van Grunsven, E.G.1
Mooijer, P.A.W.2
Aubourg, P.3
-
36
-
-
57349105177
-
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
-
van Roermund C.W., Visser W.F., Ijlst L., et al. The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 2008, 22:4201-4208.
-
(2008)
FASEB J
, vol.22
, pp. 4201-4208
-
-
van Roermund, C.W.1
Visser, W.F.2
Ijlst, L.3
-
37
-
-
33746366462
-
Biochemistry of mamalian peroxisomes revisited
-
Wanders R.J.A., Waterham H.R. Biochemistry of mamalian peroxisomes revisited. Annu Rev Biochem 2006, 75:295-332.
-
(2006)
Annu Rev Biochem
, vol.75
, pp. 295-332
-
-
Wanders, R.J.A.1
Waterham, H.R.2
-
38
-
-
0028050339
-
Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: a new method with potential for prenatal diagnosis
-
Wanders R.J.A., Ruiter J.P.N., Wijburg F.A. Mitochondrial oxidative phosphorylation in digitonin-permeabilized chorionic villus fibroblasts: a new method with potential for prenatal diagnosis. J Inherit Metab Dis 1994, 17:304-306.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 304-306
-
-
Wanders, R.J.A.1
Ruiter, J.P.N.2
Wijburg, F.A.3
|