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Results of search for 'su:"Refsum Disease"', page 15 of 33
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Authors
Avigan, J
Eldjarn, L
Gibberd, F B
Jakobs, C
Laudat, P
Moser, H W
Poll-The, B T
Poulos, A
Refsum, S
Saudubray, J M
Schutgens, R B
Sharp, P
Sidey, M C
Skjeldal, O H
Steinberg, D
Stokke, O
Suzuki, Y
Try, K
Wanders, R J
Wanders, Ronald J A
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Adolescent
Adult
Animals
Child
Fatty Acids
Female
Humans
Infant
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Microbodies
Middle Aged
Phytanic Acid
Refsum Disease
blood
complications
diagnosis
enzymology
genetics
metabolism
pathology
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281.
Ultrastructural study of a peripheral nerve biopsy in Refsum's disease.
[electronic resource]
by
Fardeau, M
Engel, W K
Producer:
19690804
In:
Journal of neuropathology and experimental neurology
vol. 28
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282.
[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDROME)].
[electronic resource]
by
KLENK, E
KAHIKE, W
Producer:
19961201
In:
Hoppe-Seyler's Zeitschrift fur physiologische Chemie
vol. 333
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283.
[Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases].
[electronic resource]
by
Petit, H
Leys, D
Skjeldal, O H
Caron, J C
Lambert, P
Lehembre, P
Hache, J C
Producer:
19870109
In:
Revue neurologique
vol. 142
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284.
Disorders related to the metabolism of phytanic acid.
[electronic resource]
by
Stokke, O
Skjeldal, O H
Høie, K
Producer:
19870722
In:
Scandinavian journal of clinical and laboratory investigation. Supplementum
vol. 184
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285.
Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis).
[electronic resource]
by
Harari, D
Gibberd, F B
Dick, J P
Sidey, M C
Producer:
19911024
In:
Journal of neurology, neurosurgery, and psychiatry
vol. 54
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286.
Studies on the metabolic error in Refsum's disease.
[electronic resource]
by
Steinberg, D
Mize, C E
Avigan, J
Fales, H M
Eldjarn, L
Try, K
Stokke, O
Refsum, S
Producer:
19670627
In:
The Journal of clinical investigation
vol. 46
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287.
A child with Refsum's disease: successful treatment with diet and plasma exchange.
[electronic resource]
by
Dickson, N
Mortimer, J G
Faed, J M
Pollard, A C
Styles, M
Peart, D A
Producer:
19890417
In:
Developmental medicine and child neurology
vol. 31
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288.
[Ataxia associated with muscular atrophy].
[electronic resource]
by
Ueda, K
Nakata, T
Producer:
19720919
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 29
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289.
[Refsum's disease].
[electronic resource]
by
Canestrini, L
Fiume Garelli, F
Producer:
19690502
In:
Rivista di neurologia
vol. 37
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290.
[Refsum syndrome in a pair of monozygotic twins].
[electronic resource]
by
Kohnen, S
Hammerstein, W
Producer:
19931220
In:
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
vol. 90
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291.
Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts.
[electronic resource]
by
Singh, H
Usher, S
Poulos, A
Producer:
19890303
In:
Archives of biochemistry and biophysics
vol. 268
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292.
The existence of an alternative pathway for the degradation of branch-chained fatty acids, and its failure in heredopathia atactica polyneuritiformis (Refsum's disease).
[electronic resource]
by
Eldjarn, L
Try, K
Stokke, O
Producer:
19670320
In:
Biochimica et biophysica acta
vol. 116
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293.
Neurological syndromes associated with pes cavus.
[electronic resource]
by
Heron, J R
Producer:
19690626
In:
Proceedings of the Royal Society of Medicine
vol. 62
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294.
The use of formic acid in carrier gas. Rapid method for identification and determination of phytanic acid by gas chromatography-mass spectrometry-chemical ionization.
[electronic resource]
by
Pileire, B
Beaune, P
Laudat, M H
Cartier, P
Producer:
19800926
In:
Journal of chromatography
vol. 182
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295.
Phytanic acid in tissue lipids in Refsum's disease.
[electronic resource]
by
Skrbic, T R
Cumings, J N
Producer:
19690219
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 23
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296.
[Neuropathies due to various causes].
[electronic resource]
by
Araki, S
Inoue, N
Producer:
19700702
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 28
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297.
Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
[electronic resource]
by
Jansen, G A
Ferdinandusse, S
Skjeldal, O H
Stokke, O
de Groot, C J
Jakobs, C
Wanders, R J
Producer:
19981104
In:
Journal of inherited metabolic disease
vol. 21
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298.
Heredopathia atactica polyneuritiformis (Refsum's disease).
[electronic resource]
by
Cervós-Navarro, J
Producer:
19920428
In:
Histology and histopathology
vol. 5
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299.
Metabolism of phytanic acid in Refsum's disease.
[electronic resource]
by
Billimoria, J D
Clemens, M E
Gibberd, F B
Whitelaw, M N
Producer:
19820322
In:
Lancet (London, England)
vol. 1
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300.
Location of double bonds in two unsaturated forms of phytanic acid from Refsum disease as determined by mass spectrometry.
[electronic resource]
by
Evans, J E
Dulaney, J T
Producer:
19830826
In:
Biochimica et biophysica acta
vol. 752
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