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Results of search for 'su:"Refsum Disease"', page 13 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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241.
[Refsum's disease. 14 years of a diet without phytol].
[electronic resource]
by
Bonduelle, M
Producer:
19830324
In:
Annales de medecine interne
vol. 133
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242.
[Ultrastructure of inborn errors of keratinization. V. Ichthyosis in Refsum's syndrome (heredopathia atactica polyneuritiformis) (author's transl)].
[electronic resource]
by
Anton-Lamprecht, I
Kahlke, W
Producer:
19750113
In:
Archiv fur dermatologische Forschung
vol. 250
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243.
Occurrence of novel branched-chain fatty acids in Refsum's disease.
[electronic resource]
by
Dulaney, J T
Williams, M
Evans, J E
Costello, C E
Kolodny, E H
Producer:
19780628
In:
Biochimica et biophysica acta
vol. 529
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244.
[Histological study of a case of Refsum's syndrome].
[electronic resource]
by
Toussaint, D
Danis, P
Producer:
19710516
In:
Bulletin de la Societe belge d'ophtalmologie
vol. 155
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245.
[Clinical and biological study of a family with Refsum-Thiébaut disease].
[electronic resource]
by
Schott, B
Masson, R
Quincy, C
Hosotte, P
David, M
Producer:
19681230
In:
Revue neurologique
vol. 118
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246.
Human liver pathology in peroxisomal diseases: a review including novel data.
[electronic resource]
by
Roels, F
Espeel, M
Poggi, F
Mandel, H
van Maldergem, L
Saudubray, J M
Producer:
19930709
In:
Biochimie
vol. 75
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247.
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.
[electronic resource]
by
Ferdinandusse, Sacha
Meissner, Thomas
Wanders, Ronald J A
Mayatepek, Ertan
Producer:
20020705
In:
Biochemical and biophysical research communications
vol. 293
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248.
Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).
[electronic resource]
by
Dykes, P J
Marks, R
Davies, M G
Reynolds, D J
Producer:
19780517
In:
The Journal of investigative dermatology
vol. 70
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249.
[Refsum's syndrome (author's transl)].
[electronic resource]
by
Thümler, R
Atzpodien, W
Kremer, G J
Haferkamp, G
Producer:
19771229
In:
Deutsche medizinische Wochenschrift (1946)
vol. 102
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250.
The nature of the metabolic defect in Refsum's disease.
[electronic resource]
by
Steinberg, D
Avigan, J
Mize, C E
Herndon, J H
Fales, H M
Milne, G W
Producer:
19681230
In:
Pathologia Europaea
vol. 3
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251.
Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency.
[electronic resource]
by
Land, John M
Heales, Simon J R
Duncan, Andrew J
Hargreaves, Iain P
Producer:
20070529
In:
Neurochemical research
vol. 32
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252.
Phytanic acid metabolism in health and disease.
[electronic resource]
by
Wanders, Ronald J A
Komen, Jasper
Ferdinandusse, Sacha
Producer:
20111107
In:
Biochimica et biophysica acta
vol. 1811
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253.
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
[electronic resource]
by
Herzog, Katharina
van Lenthe, Henk
Wanders, Ronald J A
Vaz, Frédéric M
Waterham, Hans R
Ferdinandusse, Sacha
Producer:
20180319
In:
Molecular genetics and metabolism
vol. 121
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254.
Changes in sterol and phospholipid fatty acid composition in Refsum's disease fibroblasts grown in the presence of phytol.
[electronic resource]
by
Friedman, K J
Shapiro, S S
Producer:
19851220
In:
Clinical physiology and biochemistry
vol. 3
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255.
[On the utility of hyperproteinorachia detection and myelography for the diagnosis of hypertrophic neuritis and Refsum's syndrome].
[electronic resource]
by
Amyot, R
Producer:
19660410
In:
Revue neurologique
vol. 113
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256.
Safety of long-term restrictive diets for peroxisomal disorders: vitamin and trace element status of patients treated for Adult Refsum Disease.
[electronic resource]
by
Baldwin, E J
Harrington, D J
Sampson, B
Feher, M D
Wierzbicki, A S
Producer:
20170123
In:
International journal of clinical practice
vol. 70
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257.
[Heredopathia atactica polyneuritiformis: phytanic acid storage disease (Refsum's syndrome). Effect of diet therapy on retinal and cochlear changes].
[electronic resource]
by
Refsum, S
Producer:
19840625
In:
Neurologia i neurochirurgia polska
vol. 18
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258.
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
[electronic resource]
by
Poulos, A
Sharp, P
Whiting, M
Producer:
19850122
In:
Clinical genetics
vol. 26
Online resources:
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259.
Sterols and keratinization.
[electronic resource]
by
Yardley, H J
Producer:
19690930
In:
The British journal of dermatology
vol. 81
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260.
HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE)--A DEFECT IN THE OMEGA-OXIDATION MECHANISM OF FATTY ACIDS.
[electronic resource]
by
ELDJARN, L
Producer:
19961201
In:
Scandinavian journal of clinical and laboratory investigation
vol. 17
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