CLINICAL AND BIOCHEMICAL-STUDIES IN 3 PATIENTS WITH SEVERE EARLY INFANTILE COCKAYNE SYNDROME

被引：0
|
作者：
JAEKEN, J
KLOCKER, H
SCHWAIGER, H
BELLMANN, R
HIRSCHKAUFFMANN, M
SCHWEIGER, M
机构：
[1] UNIV INNSBRUCK,INST BIOCHEM,PETER MAYR STR 1A,A-6020 INNSBRUCK,AUSTRIA
[2] CATHOLIC UNIV LEUVEN,HOSP GASTHUISBERG,DIV METAB & NUTR,B-3000 LOUVAIN,BELGIUM
[3] UNIV INNSBRUCK,INST MED BIOL & GENET,A-6020 INNSBRUCK,AUSTRIA
来源：
HUMAN GENETICS | 1989年 / 83卷 / 04期
关键词：
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：339 / 346
页数：8
相关论文
共 50 条
  • [1] INFANTILE NEUROAXONAL DYSTROPHY - MORPHOLOGICAL AND BIOCHEMICAL-STUDIES
    WISNIEWSKI, K
    CZOSNEK, H
    IQBAL, K
    KIM, KS
    RAMOS, P
    SOIFER, D
    WISNIEWSKI, HM
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1980, 39 (03): : 397 - 397
  • [2] BIOCHEMICAL-STUDIES ON LOWES SYNDROME
    YAMASHINA, I
    YOSHIDA, H
    FUKUI, S
    FUNAKOSHI, I
    MOLECULAR AND CELLULAR BIOCHEMISTRY, 1983, 52 (02) : 107 - 124
  • [3] BIOCHEMICAL-STUDIES IN THE LIVER AND MUSCLE OF PATIENTS WITH ZELLWEGER SYNDROME
    TRIJBELS, JMF
    BERDEN, JA
    MONNENS, LAH
    WILLEMS, JL
    JANSSEN, AJM
    SCHUTGENS, RBH
    VANDENBROEKVANESSEN, M
    PEDIATRIC RESEARCH, 1983, 17 (06) : 514 - 517
  • [4] CLINICAL AND BIOCHEMICAL-STUDIES WITH CENTROPHENOXINE
    DENBER, HCB
    MESHEL, E
    TELLER, DN
    RICHMAN, S
    DISEASES OF THE NERVOUS SYSTEM, 1964, 25 (12): : 724 - 732
  • [5] INFANTILE NEPHROSIS - CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC STUDIES OF THE SYNDROME
    WORTHEN, HG
    VERNIER, RL
    GOOD, RA
    AMA JOURNAL OF DISEASES OF CHILDREN, 1959, 98 (06): : 731 - 748
  • [6] PROGERIA - CLINICAL AND BIOCHEMICAL-STUDIES OF A RARE PREMATURE AGING SYNDROME
    BROWN, WT
    DARLINGTON, GJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A69 - A69
  • [7] OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME - CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL-STUDIES
    SOMER, H
    PALOTIE, A
    SOMER, M
    HOIKKA, V
    PELTONEN, L
    JOURNAL OF MEDICAL GENETICS, 1988, 25 (08) : 543 - 549
  • [8] BIOCHEMICAL-STUDIES OF THE LATE INFANTILE FORM OF METACHROMATIC LEUKODYSTROPHY
    PODUSLO, SE
    MILLER, K
    JANG, Y
    ACTA NEUROPATHOLOGICA, 1982, 57 (01) : 13 - 22
  • [9] CLINICAL, HISTOCHEMICAL AND BIOCHEMICAL-STUDIES ON THE MELAS-LIKE SYNDROME
    NIHEI, K
    KUME, M
    HIRATSUKA, S
    NAITOH, H
    NONAKA, I
    BRAIN & DEVELOPMENT, 1987, 9 (02): : 222 - 222
  • [10] INFANTILE SIALIC-ACID STORAGE DISEASE - BIOCHEMICAL-STUDIES
    BERRA, B
    GORNATI, R
    RAPELLI, S
    GATTI, R
    MANCINI, GMS
    CIANA, G
    BEMBI, B
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (01): : 24 - 31
12345