DYSMORPHIC SYNDROME WITH PHYTANIC ACID OXIDASE DEFICIENCY, ABNORMAL VERY LONG-CHAIN FATTY-ACIDS, AND PIPECOLIC ACIDEMIA - STUDIES IN 4 CHILDREN

被引：64

作者：

BUDDEN, SS

KENNAWAY, NG

BUIST, NRM

POULOS, A

WELEBER, RG

机构：

[1] OREGON HLTH SCI UNIV, DEPT PEDIAT, PORTLAND, OR 97207 USA

[2] OREGON HLTH SCI UNIV, DEPT MED GENET, PORTLAND, OR 97207 USA

[3] OREGON HLTH SCI UNIV, DEPT OPHTHALMOL, PORTLAND, OR 97207 USA

[4] ADELAIDE CHILDRENS HOSP, DEPT CHEM PATHOL, N ADELAIDE, SA 5006, AUSTRALIA

来源：

JOURNAL OF PEDIATRICS | 1986年 / 108卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(86)80765-X

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：33 / 39

页数：7

共 29 条

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[7] CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER - REPORT OF 8 CASES WITH COMMENTS UPON INCIDENCE, LIVER LESION, AND A FAULT IN PIPECOLIC ACID METABOLISM
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[8] DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES
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[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) : 1080 - 1083
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