POTENTIAL FOR THE PRENATAL-DIAGNOSIS OF HYPERORNITHINEMIA, HYPERAMMONEMIA, AND HOMOCITRULLINURIA SYNDROME

被引：4

作者：

CHADEFAUX, B

BONNEFONT, JP

RABIER, D

SHIH, VE

SAUDUBRAY, JM

KAMOUN, P

机构：

[1] HOP NECKER ENFANTS MALAD,DEPT PEDIAT,GENET MED CLIN,F-75730 PARIS 15,FRANCE

[2] MASSACHUSETTS GEN HOSP,NEUROL SERV,AMINO ACID DISORDER LAB,BOSTON,MA 02114

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 32卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320320228

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：264 / 264

页数：1

共 5 条

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[2] DECREASED TRANSPORT OF ORNITHINE ACROSS THE INNER MITOCHONDRIAL-MEMBRANE AS A CAUSE OF HYPERORNITHINEMIA [J].

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HO, CK ;

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GORDON, BA .

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[3]

OGIER H, 1988, IN PRESS EUR J PEDIA

[4] DEFECTIVE ORNITHINE METABOLISM IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH THE SYNDROME OF HYPERORNITHINEMIA, HYPERAMMONEMIA AND HOMOCITRULLINURIA [J].

SHIH, VE ;

MANDELL, R ;

HERZFELD, A .

CLINICA CHIMICA ACTA, 1982, 118 (2-3) :149-157

[5] HYPERORNITHINEMIA HYPERAMMONEMIA AND HOMOCITRULLINURIA - A NEW DISORDER OF AMINO ACID METABOLISM ASSOCIATED WITH MYOCLONIC SEIZURES AND MENTAL RETARDATION [J].

SHIH, VE ;

EFRON, ML ;

MOSER, HW .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (01) :83-&

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