Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

被引：15

作者：

Abeling, NGGM

van Gennip, AH

Blom, H

Wevers, RA

Vreken, P

van Tinteren, HLG

Bakker, HD

机构：

[1] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands

[2] Div Emma Childrens Hosp, Amsterdam, Netherlands

[3] Univ Nijmegen Hosp, Lab Pediat & Neurol, Nijmegen, Netherlands

[4] Ziekenhuis Hilversum, Dept Pediat, Hilversum, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 03期

关键词：

D O I：

10.1023/A:1005509400481

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：240 / 242

页数：3

共 6 条

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[4] RAPID HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHIC ASSAY FOR TOTAL HOMOCYSTEINE LEVELS IN HUMAN SERUM [J].

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[5] BETAINE IN THE TREATMENT OF HOMOCYSTINURIA DUE TO 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY [J].

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BREMER, HJ .

EUROPEAN JOURNAL OF PEDIATRICS, 1984, 142 (02) :147-150

[6]

WEVERS RA, 1995, CLIN CHEM, V41, P744

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