RELATION BETWEEN PHENYLALANINE-HYDROXYLASE GENOTYPES AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF HYPERPHENYLALANINAEMIC DISORDERS

被引：24

作者：

LICHTERKONECKI, U

RUPP, A

KONECKI, DS

TREFZ, FK

SCHMIDT, H

BURGARD, P

机构：

[1] UNIV HEIDELBERG,CHILDRENS HOSP,D-69120 HEIDELBERG,GERMANY

[2] PKU,GERMAN COLLABORAT STUDY,D-69120 HEIDELBERG,GERMANY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1994年 / 17卷 / 03期

关键词：

D O I：

10.1007/BF00711831

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：362 / 365

页数：4

共 7 条

[1]

APOLD J, 1993, HUM GENET, V92, P107

[2]

Eisensmith Randy C., 1992, Human Mutation, V1, P13, DOI 10.1002/humu.1380010104

[3]

Kaufman S., 1976, ADV NEUROCHEM, P1

[4] FACILITATION OF HYPERPHENYLALANINEMIA PHENOTYPE ASSESSMENT BY GENOTYPE ANALYSIS [J].

KONECKI, DS ;

SCHWEITZERKRANTZ, S ;

BYRD, D ;

TREFZ, FK ;

LICHTERKONECKI, U .

EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (12) :1048-1049

[5]

Lutz P., 1990, EUR J PEDIATR, V149, pS5

[6] MOLECULAR-BASIS OF PHENOTYPIC HETEROGENEITY IN PHENYLKETONURIA [J].

OKANO, Y ;

EISENSMITH, RC ;

GUTTLER, F ;

LICHTERKONECKI, U ;

KONECKI, DS ;

TREFZ, FK ;

DASOVICH, M ;

WANG, T ;

HENRIKSEN, K ;

LOU, H ;

WOO, SLC .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (18) :1232-1238

[7] RELATION BETWEEN GENOTYPE AND PHENOTYPE IN SWEDISH PHENYLKETONURIA AND HYPERPHENYLALANINEMIA PATIENTS [J].

SVENSSON, E ;

VONDOBELN, U ;

EISENSMITH, RC ;

HAGENFELDT, L ;

WOO, SLC .

EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (02) :132-139

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