Refsum's disease

被引：38

作者：

Wills, AJ ^{[1
]}

Manning, NJ

Reilly, MM

机构：

[1] Univ Nottingham Hosp, Dept Neurol, Nottingham NG7 2UH, England

[2] Sheffield Childrens Hosp, Dept Chem Pathol & Neonatal Screening, Sheffield S10 2TH, S Yorkshire, England

[3] UCL Natl Hosp Neurol & Neurosurg, Dept Clin Neurol, London WC1N 3BG, England

来源：

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE | 2001年 / 94卷 / 08期

关键词：

D O I：

10.1093/qjmed/94.8.403

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：403 / 406

页数：4

共 26 条

[1]

Baumgartner MR, 2000, ANN NEUROL, V47, P109, DOI 10.1002/1531-8249(200001)47:1<109::AID-ANA18>3.0.CO

[2]

2-P

[3] THE SIGNIFICANCE OF PLASMA PHYTANIC ACID LEVELS IN ADULTS [J].

BRITTON, TC ;

GIBBERD, FB ;

CLEMENS, ME ;

BILLIMORIA, JD ;

SIDEY, MC .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1989, 52 (07) :891-894

[4] DIET AND REFSUMS DISEASE - THE DETERMINATION OF PHYTANIC ACID AND PHYTOL IN CERTAIN FOODS AND THE APPLICATION OF THIS KNOWLEDGE TO THE CHOICE OF SUITABLE CONVENIENCE FOODS FOR PATIENTS WITH REFSUMS DISEASE [J].

BROWN, PJ ;

MEI, G ;

GIBBERD, FB ;

BURSTON, D ;

MAYNE, PD ;

MCCLINCHY, JE ;

SIDEY, M .

JOURNAL OF HUMAN NUTRITION AND DIETETICS, 1993, 6 (04) :295-305

[5] REFSUM DISEASE - THE PRESENTATION AND OPHTHALMIC ASPECTS OF REFSUM DISEASE IN A SERIES OF 23 PATIENTS [J].

CLARIDGE, KG ;

GIBBERD, FB ;

SIDEY, MC .

EYE, 1992, 6 :371-375

[6] Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy [J].

Ferdinandusse, S ;

Denis, S ;

Clayton, PT ;

Graham, A ;

Rees, JE ;

Allen, JT ;

McLean, BN ;

Brown, AY ;

Vreken, P ;

Waterham, HR ;

Wanders, RJA .

NATURE GENETICS, 2000, 24 (02) :188-191

[7]

GIBBERD FB, 1985, ACTA NEUROL SCAND, V72, P1

[8] PLASMA-EXCHANGE IN THE TREATMENT OF REFSUMS DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS) [J].

HARARI, D ;

GIBBERD, FB ;

DICK, JPR ;

SIDEY, MC .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1991, 54 (07) :614-617

[9] Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene [J].

Jansen, GA ;

Ferdinandusse, S ;

Ijlst, L ;

Muijsers, AO ;

Skjeldal, OH ;

Stokke, O ;

Jakobs, C ;

Besley, GTN ;

Wraith, JE ;

Wanders, RJA .

NATURE GENETICS, 1997, 17 (02) :190-193

[10] Phytanoyl-coenzyme A hydroxylase deficiency - The enzyme defect in Refsum's disease [J].

Jansen, GA ;

Wanders, RJA ;

Watkins, PA ;

Mihalik, SJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1997, 337 (02) :133-134

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