LOCALIZATION OF ENZYMATIC DEFECT IN PHYTANIC ACID STORAGE DISEASE (REFSUMS DISEASE)

被引：4

作者：

HUTTON, D ^{[1
]}

STEINBERG, D ^{[1
]}

机构：

[1] UNIV CALIF, SAN DIEGO, DEPT MED, DIV METAB DIS, BASIC SCI BLDG, LA JOLLA, CA 92037 USA

来源：

NEUROLOGY | 1973年 / 23卷 / 12期

关键词：

D O I：

10.1212/WNL.23.12.1333

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：1333 / 1334

页数：2

共 11 条

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[3] REFSUMS DISEASE - CHARACTERIZATION OF ENZYME DEFECT IN CELL CULTURE [J].

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STEINBER.D ;

UHLENDOR.BW ;

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[4] REFSUMS SYNDROME HEREDOPATHIA ATACTICA POLYNEURITIFORMIS [J].

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[5]

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[6] HEREDOPATHIA ATACTICA POLYNEURITIFORMIS IN CHILDREN - A PRELIMINARY COMMUNICATION [J].

REFSUM, S ;

SALOMONSEN, L ;

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[7]

REFSUM S, 1946, ACTA PSYCHIAT SCAND, V38, P9

[8] REFSUMS DISEASE - NATURE OF ENZYME DEFECT [J].

STEINBERG, D ;

HERNDON, JH ;

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MIZE, CE ;

AVIGAN, J ;

MILNE, GWA .

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[9]

STEINBERG D, 1966, J CLIN INVEST, V45, P1076

[10]

STEINBERG D, 1972, METABOLIC BASIS INHE

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