Refsum's disease in an Arabian family

被引：5

作者：

Fertl, E

Földy, D

Vass, K

Auff, E

Vass, C

Molzer, B

Bernheimer, H

机构：

[1] Univ Vienna, Dept Neurol Rehabil, A-1097 Vienna, Austria

[2] Univ Vienna, Dept Ophthalmol, A-1097 Vienna, Austria

[3] Univ Vienna, Inst Neurol, A-1097 Vienna, Austria

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2001年 / 70卷 / 04期

关键词：

D O I：

10.1136/jnnp.70.4.564

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：564 / 565

页数：2

共 5 条

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[2] Identification of PAHX, a Refsum disease gene [J].

Mihalik, SJ ;

Morrell, JC ;

Kim, D ;

Sacksteder, KA ;

Watkins, PA ;

Gould, SJ .

NATURE GENETICS, 1997, 17 (02) :185-189

[3] DIPHYTANYL, MONOPHYTANYL AND NONPHYTANYL TRIGLYCERIDES IN THE SERUM - SENSITIVE PARAMETER OF THE PHYTANIC ACID ACCUMULATION IN REFSUMS DISEASE [J].

MOLZER, B ;

BERNHEIMER, H ;

BAROLIN, GS ;

HOFINGER, E ;

LENZ, H .

CLINICA CHIMICA ACTA, 1979, 91 (02) :133-140

[4]

REFSUM S, 1946, ACTA PSYCHIAT SCAND, V38, pS1

[5]

SKJELDAL OH, 1996, HDB CLIN NEUROLOGY, V22, P485

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