2-HYDROXYGLUTARIC ACIDURIAS - COMMENTARY

被引：4

作者：

BARTH, PG

机构：

[1] Division of Pediatric Neurology, Emma Children's Hospital, University of Amsterdam, 1105 AZ Amsterdam

来源：

BRAIN & DEVELOPMENT | 1995年 / 17卷 / 02期

关键词：

D O I：

10.1016/0387-7604(95)00004-U

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：144 / 145

页数：2

共 14 条

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BARTH, PG ;

HOFFMANN, GF ;

JAEKEN, J ;

WANDERS, RJA ;

DURAN, M ;

JANSEN, GA ;

JAKOBS, C ;

LEHNERT, W ;

HANEFELD, F ;

VALK, J ;

SCHUTGENS, RBH ;

TREFZ, FK ;

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[2] L-2-HYDROXYGLUTARIC ACIDEMIA - A NOVEL INHERITED NEUROMETABOLIC DISEASE [J].

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VALK, J ;

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HARTUNG, HP .

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[3]

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[4] D-2-HYDROXYGLUTARIC ACIDURIA IN NEONATE WITH SEIZURES AND CNS DYSFUNCTION [J].

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HERMAN, GE .

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[5] L-2-HYDROXYGLUTARIC ACIDURIA - 2 FURTHER CASES [J].

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VIANEYSABAN, C ;

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[6]

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[7] STABLE-ISOTOPE DILUTION ANALYSIS OF D-2-HYDROXYGLUTARIC AND L-2-HYDROXYGLUTARIC ACID - APPLICATION TO THE DETECTION AND PRENATAL-DIAGNOSIS OF D-2-HYDROXYGLUTARIC AND L-2-HYDROXYGLUTARIC ACIDEMIAS [J].

GIBSON, KM ;

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SCHOR, DSM ;

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HOFFMANN, GF ;

JAKOBS, C .

PEDIATRIC RESEARCH, 1993, 34 (03) :277-280

[8] D-2-HYDROXYGLUTARIC ACIDURIA IN A NEWBORN WITH NEUROLOGICAL ABNORMALITIES - A NEW NEUROMETABOLIC DISORDER [J].

GIBSON, KM ;

CRAIGEN, W ;

HERMAN, GE ;

JAKOBS, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) :497-500

[9] L-2-HYDROXYGLUTARATE DEHYDROGENASE - IDENTIFICATION OF A NOVEL ENZYME-ACTIVITY IN RAT AND HUMAN LIVER - IMPLICATIONS FOR L-2-HYDROXYGLUTARIC ACIDEMIA [J].

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[10]

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