MOLECULAR ANALYSIS OF THE INHERITANCE OF PHENYLKETONURIA AND MILD HYPERPHENYLALANINEMIA IN FAMILIES WITH BOTH DISORDERS

被引：48

作者：

LEDLEY, FD

LEVY, HL

WOO, SLC

机构：

[1] CHILDRENS HOSP MED CTR, INBORN ERRORS METAB PHENYLKETONURIA PROGRAM, BOSTON, MA 02115 USA

[2] MASSACHUSETTS GEN HOSP, NEUROL SERV, JOSEPH P KENNEDY LABS, BOSTON, MA 02114 USA

[3] HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1986年 / 314卷 / 20期

关键词：

D O I：

10.1056/NEJM198605153142002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1276 / 1280

页数：5

共 31 条

[1] COMPOUND HETEROZYGOTES IN HYPERPHENYLALANINEMIA [J].

BARTHOLOME, K ;

OLEK, K ;

TREFZ, F .

HUMAN GENETICS, 1984, 65 (04) :405-406

[2] CAUSES FOR HIGH PHENYLALANINE WITH NORMAL TYROSINE - IN NEWBORN SCREENING PROGRAMS [J].

BERMAN, JL ;

CUNNINGHAM, GC ;

DAY, RW ;

FORD, R ;

HSIA, DYY .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 117 (01) :54-+

[3]

CHOO K H, 1980, Journal of Inherited Metabolic Disease, V2, P79, DOI 10.1007/BF01805662

[4]

COHEN BE, 1969, PEDIATRICS, V44, P655

[5]

DAIGER SP, 1986, LANCET, V1, P229

[6]

DILELLA AG, 1985, LANCET, V1, P160

[7] MOLECULAR-STRUCTURE AND POLYMORPHIC MAP OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE [J].

DILELLA, AG ;

KWOK, SCM ;

LEDLEY, FD ;

MARVIT, J ;

WOO, SLC .

BIOCHEMISTRY, 1986, 25 (04) :743-749

[8] 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

[9] CLASSIC PHENYLKETONURIA - DIAGNOSIS THROUGH HETEROZYGOTE DETECTION [J].

GRIFFIN, RF ;

ELSAS, LJ .

JOURNAL OF PEDIATRICS, 1975, 86 (04) :512-517

[10]

GUTHRIE R, 1968, Birth Defects Original Article Series, V4, P92

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