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    Results: 1 to 20 of 93

    1.

    Medical-dental findings and management of a child with infantile Refsum disease: a case report.

    Acharya BS, Ritwik P, Velasquez GM, Fenton SJ.

    Spec Care Dentist. 2012 Jun;32(3):112-7. doi: 10.1111/j.1754-4505.2012.00248.x. Epub 2012 Apr 26.

    PMID:
    22591434
    [PubMed - indexed for MEDLINE]
    2.

    Recognition and diagnosis of neuro-ichthyotic syndromes.

    Rizzo WB, Jenkens SM, Boucher P.

    Semin Neurol. 2012 Feb;32(1):75-84. doi: 10.1055/s-0032-1306390. Epub 2012 Mar 15. Review.

    PMID:
    22422210
    [PubMed - indexed for MEDLINE]
    3.

    Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.

    Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R.

    J Clin Apher. 2012;27(2):99-105. doi: 10.1002/jca.21200. Epub 2012 Jan 20.

    PMID:
    22267052
    [PubMed - indexed for MEDLINE]
    4.

    A child with night blindness: preventing serious symptoms of Refsum disease.

    Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper MJ, Rüther K.

    J Child Neurol. 2012 May;27(5):654-6. doi: 10.1177/0883073811424799. Epub 2011 Dec 7.

    PMID:
    22156782
    [PubMed - indexed for MEDLINE]
    5.

    Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency.

    Puri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA.

    Arch Dermatol. 2012 Jan;148(1):73-8. doi: 10.1001/archdermatol.2011.281. Epub 2011 Sep 19.

    PMID:
    21931015
    [PubMed - indexed for MEDLINE]
    6.

    The vitamin D receptor gene is associated with Alzheimer's disease.

    Lehmann DJ, Refsum H, Warden DR, Medway C, Wilcock GK, Smith AD.

    Neurosci Lett. 2011 Oct 24;504(2):79-82. doi: 10.1016/j.neulet.2011.08.057. Epub 2011 Sep 3.

    PMID:
    21911036
    [PubMed - indexed for MEDLINE]
    7.

    Cognitive and clinical outcomes of homocysteine-lowering B-vitamin treatment in mild cognitive impairment: a randomized controlled trial.

    de Jager CA, Oulhaj A, Jacoby R, Refsum H, Smith AD.

    Int J Geriatr Psychiatry. 2012 Jun;27(6):592-600. doi: 10.1002/gps.2758. Epub 2011 Jul 21.

    PMID:
    21780182
    [PubMed - indexed for MEDLINE]
    8.

    Infantile refsum disease with enamel defects: a case report.

    Tran D, Greenhill W, Wilson S.

    Pediatr Dent. 2011 May-Jun;33(3):266-70.

    PMID:
    21703082
    [PubMed - indexed for MEDLINE]
    9.

    Phytanic acid metabolism in health and disease.

    Wanders RJ, Komen J, Ferdinandusse S.

    Biochim Biophys Acta. 2011 Sep;1811(9):498-507. doi: 10.1016/j.bbalip.2011.06.006. Epub 2011 Jun 13. Review.

    PMID:
    21683154
    [PubMed - indexed for MEDLINE]
    10.
    11.

    The association of fasting plasma sulfur-containing compounds with BMI, serum lipids and apolipoproteins.

    Elshorbagy AK, Valdivia-Garcia M, Graham IM, Palma Reis R, Sales Luis A, Smith AD, Refsum H.

    Nutr Metab Cardiovasc Dis. 2012 Dec;22(12):1031-8. doi: 10.1016/j.numecd.2011.01.008. Epub 2011 May 6.

    PMID:
    21550220
    [PubMed - indexed for MEDLINE]
    12.

    Coronary blood flow in patients with stable coronary artery disease treated long term with folic acid and vitamin B12.

    Bleie Ø, Strand E, Ueland PM, Vollset SE, Refsum H, Igland J, Nordrehaug JE, Nygård OK.

    Coron Artery Dis. 2011 Jun;22(4):270-8. doi: 10.1097/MCA.0b013e328344fff4.

    PMID:
    21389855
    [PubMed - indexed for MEDLINE]
    13.

    Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans.

    Wanders RJ, Komen J, Kemp S.

    FEBS J. 2011 Jan;278(2):182-94. doi: 10.1111/j.1742-4658.2010.07947.x. Epub 2010 Dec 13. Review.

    PMID:
    21156023
    [PubMed - indexed for MEDLINE]
    14.

    Effects of lowering homocysteine levels with B vitamins on cardiovascular disease, cancer, and cause-specific mortality: Meta-analysis of 8 randomized trials involving 37 485 individuals.

    Clarke R, Halsey J, Lewington S, Lonn E, Armitage J, Manson JE, Bønaa KH, Spence JD, Nygård O, Jamison R, Gaziano JM, Guarino P, Bennett D, Mir F, Peto R, Collins R; B-Vitamin Treatment Trialists' Collaboration.

    Arch Intern Med. 2010 Oct 11;170(18):1622-31. doi: 10.1001/archinternmed.2010.348. Review.

    PMID:
    20937919
    [PubMed - indexed for MEDLINE]
    15.

    Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.

    Rüether K, Baldwin E, Casteels M, Feher MD, Horn M, Kuranoff S, Leroy BP, Wanders RJ, Wierzbicki AS.

    Surv Ophthalmol. 2010 Nov-Dec;55(6):531-8. doi: 10.1016/j.survophthal.2010.03.007. Epub 2010 Sep 20. Review.

    PMID:
    20850855
    [PubMed - indexed for MEDLINE]
    16.

    Homocysteine-lowering by B vitamins slows the rate of accelerated brain atrophy in mild cognitive impairment: a randomized controlled trial.

    Smith AD, Smith SM, de Jager CA, Whitbread P, Johnston C, Agacinski G, Oulhaj A, Bradley KM, Jacoby R, Refsum H.

    PLoS One. 2010 Sep 8;5(9):e12244. doi: 10.1371/journal.pone.0012244.

    PMID:
    20838622
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

    Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, M'zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM.

    Am J Hum Genet. 2010 Sep 10;87(3):410-7. doi: 10.1016/j.ajhg.2010.08.002.

    PMID:
    20797687
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Combined analyses and extended follow-up of two randomized controlled homocysteine-lowering B-vitamin trials.

    Ebbing M, Bønaa KH, Arnesen E, Ueland PM, Nordrehaug JE, Rasmussen K, Njølstad I, Nilsen DW, Refsum H, Tverdal A, Vollset SE, Schirmer H, Bleie Ø, Steigen T, Midttun Ø, Fredriksen A, Pedersen ER, Nygård O.

    J Intern Med. 2010 Oct;268(4):367-82. doi: 10.1111/j.1365-2796.2010.02259.x.

    PMID:
    20698927
    [PubMed - indexed for MEDLINE]
    19.

    The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease.

    Baldwin EJ, Gibberd FB, Harley C, Sidey MC, Feher MD, Wierzbicki AS.

    J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):954-7. doi: 10.1136/jnnp.2008.161059. Epub 2010 Jun 14.

    PMID:
    20547622
    [PubMed - indexed for MEDLINE]
    20.

    Effect of homocysteine-lowering B vitamin treatment on angiographic progression of coronary artery disease: a Western Norway B Vitamin Intervention Trial (WENBIT) substudy.

    Løland KH, Bleie O, Blix AJ, Strand E, Ueland PM, Refsum H, Ebbing M, Nordrehaug JE, Nygård O.

    Am J Cardiol. 2010 Jun 1;105(11):1577-84. doi: 10.1016/j.amjcard.2010.01.019. Epub 2010 Apr 10.

    PMID:
    20494665
    [PubMed - indexed for MEDLINE]

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