EVIDENCE FOR LIVER-DISEASE PRECEDING AMINO-ACID ABNORMALITIES IN HEREDITARY TYROSINEMIA

被引:40
作者
HOSTETTER, MK
LEVY, HL
WINTER, HS
KNIGHT, GJ
HADDOW, JE
机构
[1] CHILDRENS HOSP MED CTR,DEV EVALUAT CLIN,IEM PKU PROGRAM,BOSTON,MA 02115
[2] CHILDRENS HOSP MED CTR,DIV GASTROENTEROL & NUTR,BOSTON,MA 02115
[3] MASSACHUSETTS GEN HOSP,NEUROL SERV,JOHN F KENNEDY JR LABS,BOSTON,MA 02114
[4] HARVARD UNIV,SCH MED,DEPT NEUROL,BOSTON,MA 02115
[5] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115
[6] FDN BLOOD RES,SCARBOROUGH,ME 04074
关键词
D O I
10.1056/NEJM198305263082105
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1265 / 1267
页数:3
相关论文
共 26 条
[1]  
Alpert E, 1976, Prog Liver Dis, V5, P337
[2]  
BELANGER L, 1973, PATHOL BIOL, V21, P449
[3]   DEFICIENCY OF FUMARYLACETOACETASE IN A PATIENT WITH HEREDITARY TYROSINEMIA [J].
BERGER, R ;
SMIT, GPA ;
STOKERDEVRIES, SA ;
DURAN, M ;
KETTING, D ;
WADMAN, SK .
CLINICA CHIMICA ACTA, 1981, 114 (01) :37-44
[4]   HEREDITARY TYROSINEMIA .3. ON DIFFERENTIAL DIAGNOSIS AND LACK OF EFFECT OF EARLY DIETARY TREATMENT [J].
BODEGARD, G ;
GENTZ, J ;
LINDBLAD, B ;
LINDSTEDT, S ;
ZETTERSTROM, R .
ACTA PAEDIATRICA SCANDINAVICA, 1969, 58 (01) :37-+
[5]   HEREDITARY TYROSINEMIA - CLINICAL, ENZYMATIC, AND PATHOLOGICAL-STUDY OF AN INFANT WITH ACUTE FORM OF DISEASE [J].
CARSON, NAJ ;
BIGGART, JD ;
BITTLES, AH ;
DONOVAN, D .
ARCHIVES OF DISEASE IN CHILDHOOD, 1976, 51 (02) :106-113
[6]   PRENATAL-DIAGNOSIS OF HEREDITARY TYROSINEMIA - MEASUREMENT OF SUCCINYLACETONE IN AMNIOTIC-FLUID [J].
GAGNE, R ;
LESCAULT, A ;
GRENIER, A ;
LABERGE, C ;
MELANCON, SB ;
DALLAIRE, L .
PRENATAL DIAGNOSIS, 1982, 2 (03) :185-188
[7]   BIOCHEMICAL OBSERVATIONS ON SO-CALLED HEREDITARY TYROSINEMIA [J].
GAULL, GE ;
RASSIN, DK ;
SOLOMON, GE ;
HARRIS, RC ;
STURMAN, JA .
PEDIATRIC RESEARCH, 1970, 4 (04) :337-&
[8]   TYROSINEMIA - AN INBORN ERROR OF TYROSINE METABOLISM WITH CIRRHOSIS OF LIVER AND MULTIPLE RENAL TUBULAR DEFECTS ( DE TONI-DEBRE-FANCONI SYNDROME ) [J].
GENTZ, J ;
JAGENBURG, R ;
ZETTERSTROEM, R .
JOURNAL OF PEDIATRICS, 1965, 66 (04) :670-+
[9]   TYROSINEMIA WITH PLANTAR AND PALMAR KERATOSIS AND KERATITIS [J].
GOLDSMITH, LA ;
KANG, E ;
BIENFANG, DC ;
JIMBOW, K ;
GERALD, P ;
BADEN, HP .
JOURNAL OF PEDIATRICS, 1973, 83 (05) :798-805
[10]   ACUTE HEREDITARY TYROSINEMIA TYPE-I - CLINICAL, BIOCHEMICAL AND HEMATOLOGICAL STUDIES IN TWINS [J].
GRAY, RGF ;
PATRICK, AD ;
PRESTON, FE ;
WHITFIELD, MF .
JOURNAL OF INHERITED METABOLIC DISEASE, 1981, 4 (01) :37-40