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Volumn 16, Issue 11, 2006, Pages 805-808

Refsum's disease may mimic familial Guillain Barre syndrome

Author keywords

Guillain Barre; Hereditary neuropathy; Phytanic acid; Refsum

Indexed keywords

PHYTANIC ACID;

EID: 33750454142     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.07.001     Document Type: Article
Times cited : (8)

References (10)
  • 1
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    • Heredoataxia hemeralopica poluneuritiformis et tidligere ikke beskrevet familiaert syndrom?
    • Refsum S. Heredoataxia hemeralopica poluneuritiformis et tidligere ikke beskrevet familiaert syndrom?. Nordisk Medicin 28 (1945) 2682-2685
    • (1945) Nordisk Medicin , vol.28 , pp. 2682-2685
    • Refsum, S.1
  • 2
    • 0036316242 scopus 로고    scopus 로고
    • Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation
    • Wierzbicki A.S., Lloyd M.D., Schofield C.J., et al. Refsum's disease: a peroxisomal disorder affecting phytanic acid α-oxidation. J Neurochem 80 (2002) 727-735
    • (2002) J Neurochem , vol.80 , pp. 727-735
    • Wierzbicki, A.S.1    Lloyd, M.D.2    Schofield, C.J.3
  • 4
    • 84984777129 scopus 로고    scopus 로고
    • Refsum's disease is caused by mutation in the phytanoyl-CoA Hydroxylase gene
    • Jansen J.A., Ofman R., Ferdinandusse S., et al. Refsum's disease is caused by mutation in the phytanoyl-CoA Hydroxylase gene. Nat Genet 17 (1997) 190-193
    • (1997) Nat Genet , vol.17 , pp. 190-193
    • Jansen, J.A.1    Ofman, R.2    Ferdinandusse, S.3
  • 5
    • 0037318856 scopus 로고    scopus 로고
    • Identification of PEX 7 as the second gene involved in Refsum's disease
    • Van den Brink D.M., Brites P., Haasjes J., et al. Identification of PEX 7 as the second gene involved in Refsum's disease. Am J Hum Genet 72 (2003) 471-477
    • (2003) Am J Hum Genet , vol.72 , pp. 471-477
    • Van den Brink, D.M.1    Brites, P.2    Haasjes, J.3
  • 6
    • 0033385080 scopus 로고    scopus 로고
    • Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management
    • Weinstein R. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apheresis 14 (1999) 181-184
    • (1999) J Clin Apheresis , vol.14 , pp. 181-184
    • Weinstein, R.1
  • 7
    • 1642385258 scopus 로고    scopus 로고
    • Variants and mimics of Guillain Barre syndrome
    • Levin K.H. Variants and mimics of Guillain Barre syndrome. Neurologist 10 (2004) 61-74
    • (2004) Neurologist , vol.10 , pp. 61-74
    • Levin, K.H.1
  • 8
    • 0037323130 scopus 로고    scopus 로고
    • Diagnosis of hereditary neuropathies in adult patients
    • Pareyson D. Diagnosis of hereditary neuropathies in adult patients. J Neurol 250 (2003) 148-160
    • (2003) J Neurol , vol.250 , pp. 148-160
    • Pareyson, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.