HYPERPHENYLALANINEMIA DUE TO A DEFICIENCY OF BIOPTERIN - VARIANT FORM OF PHENYLKETONURIA

被引：177

作者：

KAUFMAN, S

BERLOW, S

SUMMER, GK

MILSTIEN, S

SCHULMAN, JD

ORLOFF, S

SPIELBERG, S

PUESCHEL, S

机构：

[1] UNIV WISCONSIN,WAISMAN CTR,MADISON,WI 53706

[2] UNIV N CAROLINA,DEPT BIOCHEM & NUTR,CHAPEL HILL,NC 27514

[3] NICHHD,NEONATAL & PEDIAT MED BRANCH,BETHESDA,MD 20014

[4] JOHNS HOPKINS UNIV,DEPT PEDIAT,BALTIMORE,MD 21218

[5] CHILD DEV CTR,PROVIDENCE,RI

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1978年 / 299卷 / 13期

关键词：

D O I：

10.1056/NEJM197809282991301

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：673 / 679

页数：7

共 26 条

[1] BIOPTERIN CONTENT OF HUMAN AND RAT FLUIDS AND TISSUES DETERMINED PROTOZOOLOGICALLY [J].

BAKER, H ;

FRANK, O ;

BACCHI, CJ ;

HUTNER, SH .

AMERICAN JOURNAL OF CLINICAL NUTRITION, 1974, 27 (11) :1247-1253

[2]

BARTHOLOME K, 1975, PEDIATR RES, V9, P899, DOI 10.1203/00006450-197509120-00006

[3]

BARTHOLOME K, 1974, LANCET, V2, P1580

[4]

BARTHOLOME K, 1977, PEDIATRICS, V59, P757

[5] TOLERANCE OF PHENYLALANINE AFTER INTRAVENOUS ADMINISTRATION IN PHENYLKETONURICS HETEROZYGOUS CARRIERS AND NORMAL ADULTS [J].

BREMER, HJ ;

NEUMANN, W .

NATURE, 1966, 209 (5028) :1148-&

[6]

BREWSTER TG, 1976, PEDIATR RES, V10, P446

[7] DISORDER OF BIOGENIC-AMINES IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY [J].

BUTLER, IJ ;

KOSLOW, SH ;

KRUMHOLZ, A ;

HOLTZMAN, NA ;

KAUFMAN, S .

ANNALS OF NEUROLOGY, 1978, 3 (03) :224-230

[8]

DEWEY VC, 1971, METHODS ENZYMOLOGY B, V18, P618

[9] DETECTION OF HEPATIC PHENYLALANINE 4-HYDROXYLASE IN CLASSICAL PHENYLKETONURIA [J].

FRIEDMAN, PA ;

FISHER, DB ;

KANG, ES ;

KAUFMAN, S .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (02) :552-556

[10] PHENYLKETONURIA - BLOOD LEVELS OF PHENYLPYRUVIC AND ORTHO-HYDROXYPHENYLACETIC ACIDS [J].

JERVIS, GA ;

DREJZA, EJ .

CLINICA CHIMICA ACTA, 1966, 13 (04) :435-&

← 1 2 3 →