BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 2452736)

  • 1. Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years.
    Robertson EF; Poulos A; Sharp P; Manson J; Wise G; Jaunzems A; Carter R
    Eur J Pediatr; 1988 Feb; 147(2):133-42. PubMed ID: 2452736
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment.
    Djupesland G; Flottorp G; Refsum S
    Neurology; 1983 Feb; 33(2):237-40. PubMed ID: 6185882
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Refsum's disease: management by diet and plasmapheresis.
    Hungerbühler JP; Meier C; Rousselle L; Quadri P; Bogousslavsky J
    Eur Neurol; 1985; 24(3):153-9. PubMed ID: 2581787
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange.
    Gibberd FB; Billimoria JD; Page NG; Retsas S
    Lancet; 1979 Mar; 1(8116):575-8. PubMed ID: 85164
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.
    Beard ME; Moser AB; Sapirstein V; Holtzman E
    J Inherit Metab Dis; 1986; 9(4):321-34. PubMed ID: 2435984
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Heredopathia atactica polyneuritiformis: phytanic acid storage disease (Refsum's syndrome). Effect of diet therapy on retinal and cochlear changes].
    Refsum S
    Neurol Neurochir Pol; 1984; 18(1):1-4. PubMed ID: 6203044
    [No Abstract]   [Full Text] [Related]  

  • 9. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.
    Scotto JM; Hadchouel M; Odievre M; Laudat MH; Saudubray JM; Dulac O; Beucler I; Beaune P
    J Inherit Metab Dis; 1982; 5(2):83-90. PubMed ID: 6188882
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The significance of plasma phytanic acid levels in adults.
    Britton TC; Gibberd FB; Clemens ME; Billimoria JD; Sidey MC
    J Neurol Neurosurg Psychiatry; 1989 Jul; 52(7):891-4. PubMed ID: 2475586
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease.
    Molzer B; Bernheimer H; Barolin GS; Höfinger E; Lenz H
    Clin Chim Acta; 1979 Jan; 91(2):133-40. PubMed ID: 83207
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Refsum's disease. 14 years of a diet without phytol].
    Bonduelle M
    Ann Med Interne (Paris); 1982; 133(7):488-9. PubMed ID: 6186174
    [No Abstract]   [Full Text] [Related]  

  • 14. [Refsum's disease: 10 years of a diet low in phytanic acid and phytol].
    Dry J; Pradalier A; Canny M
    Ann Med Interne (Paris); 1982; 133(7):483-7. PubMed ID: 6186173
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome.
    Wanders RJ; Smit W; Heymans HS; Schutgens RB; Barth PG; Schierbeek H; Smit GP; Berger R; Przyrembel H; Eggelte TA
    Clin Chim Acta; 1987 Jun; 166(1):45-56. PubMed ID: 2440622
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Dietary treatment of a patient with Refsum's syndrome (clinical and chemical course observation during a phytol and phytanic acid-poor diet)].
    Thümler R; Atzpodien W; Kremer GJ
    Verh Dtsch Ges Inn Med; 1977 Apr 17-21; 83():1084-6. PubMed ID: 77097
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease.
    Poulos A; Sharp P
    Neurology; 1984 Dec; 34(12):1606-9. PubMed ID: 6209596
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.
    Herbert MA; Clayton PT
    J Inherit Metab Dis; 1994; 17(2):211-4. PubMed ID: 7526031
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.