191 related articles for article (PubMed ID: 2427795)
1. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.
Poll-The BT; Saudubray JM; Ogier H; Schutgens RB; Wanders RJ; Schrakamp G; van den Bosch H; Trijbels JM; Poulos A; Moser HW
J Inherit Metab Dis; 1986; 9(2):169-74. PubMed ID: 2427795
[TBL] [Abstract][Full Text] [Related]
2. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.
Wanders RJ; Heymans HS; Schutgens RB; Poll-Thé BT; Saudubray JM; Tager JM; Schrakamp G; van den Bosch H
J Neurol Sci; 1988 Apr; 84(2-3):147-55. PubMed ID: 2454298
[TBL] [Abstract][Full Text] [Related]
3. Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
Poulos A; Sharp P; Fellenberg AJ; Danks DM
Hum Genet; 1985; 70(2):172-7. PubMed ID: 2408988
[TBL] [Abstract][Full Text] [Related]
4. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
Budden SS; Kennaway NG; Buist NR; Poulos A; Weleber RG
J Pediatr; 1986 Jan; 108(1):33-9. PubMed ID: 2418187
[TBL] [Abstract][Full Text] [Related]
5. Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.
Aubourg P; Kremser K; Roland MO; Rocchiccioli F; Singh I
Pediatr Res; 1993 Sep; 34(3):270-6. PubMed ID: 7510868
[TBL] [Abstract][Full Text] [Related]
6. [Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
Schmitt K; Molzer B; Stöckler S; Tulzer G; Tulzer W
Wien Klin Wochenschr; 1993; 105(11):320-2. PubMed ID: 7687405
[TBL] [Abstract][Full Text] [Related]
7. A sibship with a mild variant of Zellweger syndrome.
Barth PG; Schutgens RB; Wanders RJ; Heymans HS; Moser AE; Moser HW; Bleeker-Wagemakers EM; Jansonius-Schultheiss K; Derix M; Nelck GF
J Inherit Metab Dis; 1987; 10(3):253-9. PubMed ID: 3123783
[TBL] [Abstract][Full Text] [Related]
8. Infantile Refsum's disease: a peroxisomal storage disorder?
Manson JI; Pollard AC; Poulos A; Carter RF
Clin Exp Neurol; 1985; 21():283-7. PubMed ID: 2436838
[TBL] [Abstract][Full Text] [Related]
9. Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.
Wanders RJ; Boltshauser E; Steinmann B; Spycher MA; Schutgens RB; van den Bosch H; Tager JM
J Neurol Sci; 1990 Aug; 98(1):1-11. PubMed ID: 1700075
[TBL] [Abstract][Full Text] [Related]
10. Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.
Skjeldal OH; Stokke O; Refsum S; Norseth J; Petit H
J Neurol Sci; 1987 Jan; 77(1):87-96. PubMed ID: 2433405
[TBL] [Abstract][Full Text] [Related]
11. Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants.
Poulos A; Singh H; Paton B; Sharp P; Derwas N
Clin Genet; 1986 May; 29(5):397-408. PubMed ID: 2427264
[TBL] [Abstract][Full Text] [Related]
12. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
Poll-The BT; Skjeldal OH; Stokke O; Poulos A; Demaugre F; Saudubray JM
Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
[TBL] [Abstract][Full Text] [Related]
13. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
Poulos A; Sharp P; Whiting M
Clin Genet; 1984 Dec; 26(6):579-86. PubMed ID: 6209040
[TBL] [Abstract][Full Text] [Related]
14. [Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].
Molzer B; Stöckler S; Bernheimer H
Wien Klin Wochenschr; 1992; 104(21):665-70. PubMed ID: 1282286
[TBL] [Abstract][Full Text] [Related]
15. Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.
Schutgens RB; Wanders RJ; Heymans HS; Schram AW; Tager JM; Schrakamp G; van den Bosch H
J Inherit Metab Dis; 1987; 10 Suppl 1():33-45. PubMed ID: 3119940
[TBL] [Abstract][Full Text] [Related]
16. Dyggve-Melchior-Clausen syndrome with increased pipecolic acid in plasma and urine.
Roesel RA; Carroll JE; Rizzo WB; van der Zalm T; Hahn DA
J Inherit Metab Dis; 1991; 14(6):876-80. PubMed ID: 1779646
[TBL] [Abstract][Full Text] [Related]
17. Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
Poulos A; Pollard AC; Mitchell JD; Wise G; Mortimer G
Arch Dis Child; 1984 Mar; 59(3):222-9. PubMed ID: 6201142
[TBL] [Abstract][Full Text] [Related]
18. Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders.
Molzer B; Kainz-Korschinsky M; Sundt-Heller R; Bernheimer H
J Clin Chem Clin Biochem; 1989 May; 27(5):309-14. PubMed ID: 2474624
[TBL] [Abstract][Full Text] [Related]
19. Disorders related to the metabolism of phytanic acid.
Stokke O; Skjeldal OH; Høie K
Scand J Clin Lab Invest Suppl; 1986; 184():3-10. PubMed ID: 2438746
[TBL] [Abstract][Full Text] [Related]
20. Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.
Schutgens RB; Wanders RJ; Nijenhuis A; van den Hoek CM; Heymans HS; Schrakamp G; Bleeker-Wagemakers EM; Delleman JW; Schram AW; Tager JM
Enzyme; 1987; 38(1-4):161-76. PubMed ID: 3440444
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
