THE ENZYME DEFECTS IN HEREDITARY TYROSINEMIA TYPE-I

被引:0
|
作者
FURUKAWA, N [1 ]
HAYANO, T [1 ]
SATO, N [1 ]
INOUE, F [1 ]
MACHIDA, Y [1 ]
KINUGASA, A [1 ]
IMASHUKU, S [1 ]
KUSUNOKI, T [1 ]
TAKAMATISU, T [1 ]
机构
[1] KYOTO PREFECTURAL UNIV MED,DEPT PATHOL,KAMIKYO KU,KYOTO 602,JAPAN
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:137 / 138
页数:2
相关论文
共 50 条
  • [31] PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA TYPE-I BY DETERMINATION OF FUMARYLACETOACETASE IN CHORIONIC VILLUS MATERIAL
    KVITTINGEN, EA
    GUIBAUD, PP
    DIVRY, P
    MANDON, G
    ROLLAND, MO
    DOMENICHINI, Y
    JAKOBS, C
    CHRISTENSEN, E
    EUROPEAN JOURNAL OF PEDIATRICS, 1986, 144 (06) : 597 - 598
  • [32] PERSISTENT SUCCINYLACETONE EXCRETION AFTER LIVER-TRANSPLANTATION IN A PATIENT WITH HEREDITARY TYROSINEMIA TYPE-I
    TUCHMAN, M
    FREESE, DK
    SHARP, HL
    WHITLEY, CB
    RAMNARAINE, ML
    ULSTROM, RA
    NAJARIAN, JS
    ASCHER, N
    BUIST, NRM
    TERRY, AB
    JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 (01) : 21 - 24
  • [33] HEREDITARY TYROSINEMIA TYPE-I - A NEW CLINICAL CLASSIFICATION WITH DIFFERENCE IN PROGNOSIS ON DIETARY-TREATMENT
    VANSPRONSEN, FJ
    THOMASSE, Y
    SMIT, GPA
    LEONARD, JV
    CLAYTON, PT
    FIDLER, V
    BERGER, R
    HEYMANS, HSA
    HEPATOLOGY, 1994, 20 (05) : 1187 - 1191
  • [34] IDENTIFICATION OF A STOP MUTATION IN 5 FINNISH PATIENTS SUFFERING FROM HEREDITARY TYROSINEMIA TYPE-I
    STLOUIS, M
    LECLERC, B
    LAINE, J
    SALO, MK
    HOLMBERG, C
    TANGUAY, RM
    HUMAN MOLECULAR GENETICS, 1994, 3 (01) : 69 - 72
  • [35] ENZYMIC DEFECTS IN HEREDITARY TYROSINEMIA
    LINDBLAD, B
    LINDSTEDT, S
    STEEN, G
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (10) : 4641 - 4645
  • [36] PERIPHERAL-NERVE FINDINGS IN NEUROLOGICAL CRISIS COMPLICATING HEREDITARY HEPATORENAL TYROSINEMIA (TYPE-I)
    MICHAUD, J
    MITCHELL, G
    LAROCHELLE, J
    MELANCON, S
    DALLAIRE, L
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1987, 14 (01) : 97 - 97
  • [37] LABORATORY MONITORING OF PATIENTS WITH HEREDITARY TYROSINEMIA TYPE I
    Schultz, Matthew
    Netzel, Brian
    Singh, Rani
    Gavrilov, Dimitar
    Oglesbee, Devin
    Raymond, Kimiyo
    Rinaldo, Piero
    Tortorelli, Silvia
    Matern, Dietrich
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (03) : 324 - 325
  • [38] PHARMACOLOGICAL CORRECTION OF NEONATAL LETHAL HEPATIC-DYSFUNCTION IN A MURINE MODEL OF HEREDITARY TYROSINEMIA TYPE-I
    GROMPE, M
    LINDSTEDT, S
    ALDHALIMY, M
    KENNAWAY, NG
    PAPACONSTANTINOU, J
    TORRESRAMOS, CA
    OU, CN
    FINEGOLD, M
    NATURE GENETICS, 1995, 10 (04) : 453 - 460
  • [39] LABORATORY MONITORING OF PATIENTS WITH HEREDITARY TYROSINEMIA TYPE I
    Schultz, Matthew
    Netzel, Brian
    Singh, Rani
    Gavrilov, Dimitar
    Oglesbee, Devin
    Raymond, Kimiyo
    Rinaldo, Piero
    Tortorelli, Silvia
    Matern, Dietrich
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 298 - 299
  • [40] HEREDITARY TYROSINEMIA TYPE-I - LACK OF CORRELATION BETWEEN CLINICAL FINDINGS AND AMOUNT OF IMMUNOREACTIVE FUMARYLACETOACETASE PROTEIN
    KVITTINGEN, EA
    ROOTWELT, H
    VANDAM, T
    VANFAASSEN, H
    BERGER, R
    PEDIATRIC RESEARCH, 1992, 31 (01) : 43 - 46