THE HYPERPHENYLALANINEMIAS OF MAN AND MOUSE

被引：0
作者：
SCRIVER, CR
EISENSMITH, RC
WOO, SLC
KAUFMAN, S
机构：
[1] MONTREAL CHILDRENS HOSP,RES INST,DIV MED GENET,DEBELLE LAB,MONTREAL,PQ H3H 1P3,CANADA
[2] BAYLOR COLL MED,HOWARD HUGHES MED INST,HOUSTON,TX 77030
[3] NIH,NEUROCHEM LAB,BETHESDA,MD 20014
来源：
ANNUAL REVIEW OF GENETICS | 1994年 / 28卷
关键词：
PHENYLALANINE HYDROXYLASE; PHENYLALANINE HYDROXYLATION REACTION; TETRAHYDROBIOPTERIN SYNTHESIS AND RECYCLING; PHENYLKETONURIA; PAH GENE HUMAN; PAH GENE MOUSE;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：141 / 165
页数：25
相关论文
共 155 条
  • [1] ALAQEEL A, 1992, J CHILD NEUROL, V7, pS26
  • [2] ALDER C, 1992, J INHERIT METAB DIS, V15, P405
  • [3] [Anonymous], 1993, ARCH DIS CHILD, V68, P426
  • [4] Apold Jaran, 1993, Developmental Brain Dysfunction, V6, P109
  • [5] ARMAREGO WLF, 1989, BIOCHEM J, V261, P256
  • [6] AVIGAD S, 1990, NATURE, V334, P168
  • [7] Bearn A.G., 1993, ARCHIBALD GARROD IND
  • [8] A SUGGESTED NOMENCLATURE FOR DESIGNATING MUTATIONS
    BEAUDET, AL
    TSUI, LC
    [J]. HUMAN MUTATION, 1993, 2 (04) : 245 - 248
  • [9] DISTURBED MYELINATION IN PATIENTS WITH TREATED HYPERPHENYLALANINEMIA - EVALUATION WITH MAGNETIC-RESONANCE-IMAGING
    BICK, U
    FAHRENDORF, G
    LUDOLPH, AC
    VASSALLO, P
    WEGLAGE, J
    ULLRICH, K
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1991, 150 (03) : 185 - 189
  • [10] ATYPICAL (MILD) FORMS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - NEUROCHEMICAL EVALUATION AND MUTATION DETECTION
    BLAU, N
    HEIZMANN, CW
    SPERL, W
    KORENKE, GC
    HOFFMANN, GF
    SMOOKER, PM
    COTTON, RGH
    [J]. PEDIATRIC RESEARCH, 1992, 32 (06) : 726 - 730
12345678910