HOMOZYGOUS HYPOBETALIPOPROTEINEMIA AND PHENYLKETONURIA

被引：1
|
作者：
LEITITIS, JU
STAHL, M
TACKMANN, W
WICK, H
WILDBERG, A
机构：
[1] UNIV BASEL,CHILDRENS HOSP,BASEL,SWITZERLAND
[2] UNIV BONN,DEPT NEUROL,D-5300 BONN,FED REP GER
[3] CITY HOSP,DEPT PEDIAT,LORRACH,FED REP GER
来源：
EUROPEAN JOURNAL OF PEDIATRICS | 1985年 / 144卷 / 02期
关键词：
D O I：
10.1007/BF00451908
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：174 / 176
页数：3
相关论文
共 50 条
  • [31] Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report
    Kudo, Takanori
    Sasaki, Kei
    Tada, Hayato
    [J]. JOURNAL OF CLINICAL LIPIDOLOGY, 2022, 16 (05) : 596 - 600
  • [32] NOVEL HOMOZYGOUS MUTATION OF PHENYLALANINE-HYDROXYLASE GENE IN A CHINESE PATIENT WITH PHENYLKETONURIA
    TAKARADA, Y
    YAMASHITA, K
    OHTSUKA, N
    KAGAWA, S
    MATSUOKA, A
    [J]. CLINICAL CHEMISTRY, 1993, 39 (06) : 1350 - 1350
  • [33] A CASE OF PHENYLKETONURIA IN ETA RESULTING FROM MATING OF A HOMOZYGOUS FATHER AND A HETEROZYGOUS MOTHER
    FUJIKI, N
    DREW, AL
    NEMOTO, H
    SHIMADA, T
    MIYAKE, M
    SUJAKU, C
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1961, 13 (01) : 64 - &
  • [34] DONOR SPLICE MUTATION GENERATES A LIPID-ASSOCIATED APOLIPOPROTEIN B-27.6 IN A PATIENT WITH HOMOZYGOUS HYPOBETALIPOPROTEINEMIA
    TALMUD, PJ
    KRUL, ES
    PESSAH, M
    GAY, G
    SCHONFELD, G
    HUMPHRIES, SE
    INFANTE, R
    [J]. JOURNAL OF LIPID RESEARCH, 1994, 35 (03) : 468 - 477
  • [35] HORMONE CHANGES DURING THE MENSTRUAL-CYCLE IN ABETALIPOPROTEINEMIA - REDUCED LUTEAL PHASE PROGESTERONE IN A PATIENT WITH HOMOZYGOUS HYPOBETALIPOPROTEINEMIA
    ILLINGWORTH, DR
    CORBIN, DK
    KEMP, ED
    KEENAN, EJ
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (21): : 6685 - 6689
  • [36] HOMOZYGOUS HYPOBETALIPOPROTEINEMIA - TRANSCRIPTIONAL REGULATION AND 5'-FLANKING SEQUENCE-ANALYSIS IN AN APOLIPOPROTEIN-B DEFICIENCY STATE
    ROSS, RS
    HOEG, JM
    HIGUCHI, K
    SCHUMACHER, UK
    FOJO, S
    GREGG, RE
    BREWER, HB
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1989, 1004 (01) : 29 - 35
  • [37] ACANTHOCYTES AND HYPOBETALIPOPROTEINEMIA
    GRACEY, M
    HILTON, HB
    [J]. LANCET, 1973, 1 (7804): : 679 - 679
  • [38] FAMILIAL HYPOBETALIPOPROTEINEMIA
    MAWATARI, S
    IWASHITA, H
    KUROIWA, Y
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1972, 16 (01) : 93 - &
  • [39] NEONATAL HYPOBETALIPOPROTEINEMIA
    GLUECK, CJ
    MELLIES, MJ
    TSANG, RC
    STEINER, PM
    STEIN, EA
    [J]. PEDIATRIC RESEARCH, 1978, 12 (05) : 665 - 668
  • [40] ACANTHOCYTES AND HYPOBETALIPOPROTEINEMIA
    ROBERTSON, AL
    [J]. LANCET, 1973, 1 (7808): : 882 - 882
12345