A SURVEY OF INBORN-ERRORS OF AMINO-ACID-METABOLISM AND TRANSPORT IN MAN

被引:72
作者
WELLNER, D
MEISTER, A
机构
关键词
D O I
10.1146/annurev.bi.50.070181.004403
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:911 / 968
页数:58
相关论文
共 434 条
[111]  
GATFIELD PD, 1968, CAN MED ASSOC J, V99, P1215
[112]   HYPERORNITHINEMIA, HYPERAMMONEMIA, AND HOMOCITRULLINURIA ASSOCIATED WITH DECREASED CARBAMYL-PHOSPHATE SYNTHETASE-I ACTIVITY [J].
GATFIELD, PD ;
TALLER, E ;
WOLFE, DM ;
HAUST, MD .
PEDIATRIC RESEARCH, 1975, 9 (05) :488-497
[113]   BIOCHEMICAL OBSERVATIONS ON SO-CALLED HEREDITARY TYROSINEMIA [J].
GAULL, GE ;
RASSIN, DK ;
SOLOMON, GE ;
HARRIS, RC ;
STURMAN, JA .
PEDIATRIC RESEARCH, 1970, 4 (04) :337-&
[114]   METHIONINE ADENOSYLTRANSFERASE DEFICIENCY - NEW ENZYMATIC DEFECT ASSOCIATED WITH HYPERMETHIONINEMIA [J].
GAULL, GE ;
TALLAN, HH .
SCIENCE, 1974, 186 (4158) :59-60
[115]  
GAULL GE, 1975, NORMAL PATHOLOGICAL, P11
[116]  
GERRITSEN T, 1978, METABOLIC BASIS INHE, P514
[117]   HYPERLYSINEMIA ASSOCIATED WITH RETARDATION [J].
GHADIMI, H ;
BINNINGT.VI ;
PECORA, P .
NEW ENGLAND JOURNAL OF MEDICINE, 1965, 273 (14) :723-&
[118]   A FAMILIAL DISTURBANCE OF HISTIDINE METABOLISM [J].
GHADIMI, H ;
PARTINGTON, MW ;
HUNTER, A .
NEW ENGLAND JOURNAL OF MEDICINE, 1961, 265 (05) :221-&
[119]   METHYLMALONIC ACIDURIA WITHOUT VITAMIN-B12 DEFICIENCY IN AN ADULT SIBSHIP [J].
GIORGIO, AJ ;
TROWBRIDGE, M ;
BOONE, AW ;
PATTEN, RS .
NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (06) :310-313
[120]   TREATMENT OF CYSTINOSIS WITH CYSTEAMINE [J].
GIRARDIN, EP ;
DEWOLFE, MS ;
CROCKER, JFS .
JOURNAL OF PEDIATRICS, 1979, 94 (05) :838-840