4-HYDROXYBUTYRIC ACIDURIA - A NEW INBORN ERROR OF METABOLISM .3. ENZYMOLOGY AND INHERITANCE

被引：17

作者：

GIBSON, KM

JANSEN, I

SWEETMAN, L

NYHAN, WL

RATING, D

JAKOBS, C

DIVRY, P

机构：

[1] UNIV CALIF SAN DIEGO,DEPT MED,LA JOLLA,CA 92093

[2] UNIV CALIF SAN DIEGO,DEPT PEDIAT,LA JOLLA,CA 92093

[3] FREE UNIV BERLIN,DEPT PEDIAT,D-1000 BERLIN 19,FED REP GER

[4] FREE UNIV AMSTERDAM,ACAD HOSP,DEPT PEDIAT,1007 MB AMSTERDAM,NETHERLANDS

[5] HOP DEBROUSSE,BIOCHIM LAB,F-69322 LYON 5,FRANCE

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1984年 / 7卷

关键词：

D O I：

10.1007/BF03047383

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：95 / 96

页数：2

共 18 条

[1] REGIONAL BRAIN LEVELS OF GAMMA-HYDROXYBUTYRATE IN HUNTINGTONS-DISEASE [J].

ANDO, N ;

GOLD, BI ;

BIRD, ED ;

ROTH, RH .

JOURNAL OF NEUROCHEMISTRY, 1979, 32 (02) :617-622

[2] PURIFICATION FROM HUMAN-BRAIN AND SOME PROPERTIES OF 2 NADPH-LINKED ALDEHYDE REDUCTASES WHICH REDUCE SUCCINIC SEMI-ALDEHYDE TO 4-HYDROXYBUTYRATE [J].

CASH, CD ;

MAITRE, M ;

MANDEL, P .

JOURNAL OF NEUROCHEMISTRY, 1979, 33 (06) :1169-1175

[3] A NEW PATIENT WITH 4-HYDROXYBUTYRIC ACIDURIA, A POSSIBLE DEFECT OF 4-AMINOBUTYRATE METABOLISM [J].

DIVRY, P ;

BALTASSAT, P ;

ROLLAND, MO ;

COTTE, J ;

HERMIER, M ;

DURAN, M ;

WADMAN, SK .

CLINICA CHIMICA ACTA, 1983, 129 (03) :303-309

[4] METABOLISM OF GAMMA-HYDROXY-[1-C-14] BUTYRATE BY RAT-BRAIN - RELATIONSHIP TO KREBS CYCLE AND METABOLIC COMPARTMENTATION OF AMINO-ACIDS [J].

DOHERTY, JD ;

ROTH, RH .

JOURNAL OF NEUROCHEMISTRY, 1978, 30 (06) :1305-1309

[5] 4-HYDROXYBUTYRIC ACIDURIA - A NEW INBORN ERROR OF METABOLISM .3. ENZYMOLOGY AND INHERITANCE [J].

GIBSON, KM ;

JANSEN, I ;

SWEETMAN, L ;

NYHAN, WL ;

RATING, D ;

JAKOBS, C ;

DIVRY, P .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :95-96

[6] SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - AN INBORN ERROR OF GAMMA-AMINOBUTYRIC ACID METABOLISM [J].

GIBSON, KM ;

SWEETMAN, L ;

NYHAN, WL ;

JAKOBS, C ;

RATING, D ;

SIEMES, H ;

HANEFELD, F .

CLINICA CHIMICA ACTA, 1983, 133 (01) :33-42

[7] 4-HYDROXYBUTYRIC ACIDURIA - A NEW INBORN ERROR OF METABOLISM .2. BIOCHEMICAL FINDINGS [J].

JAKOBS, C ;

KNEER, J ;

RATING, D ;

HANEFELD, F ;

DIVRY, P ;

HERMIER, M .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :92-94

[8] URINARY-EXCRETION OF GAMMA-HYDROXYBUTYRIC ACID IN A PATIENT WITH NEUROLOGICAL ABNORMALITIES - THE PROBABILITY OF A NEW INBORN ERROR OF METABOLISM [J].

JAKOBS, C ;

BOJASCH, M ;

MONCH, E ;

RATING, D ;

SIEMES, H ;

HANEFELD, F .

CLINICA CHIMICA ACTA, 1981, 111 (2-3) :169-178

[9] GAMMA-AMINOBUTYRATE PATHWAY IN MAMMALIAN KIDNEY-CORTEX [J].

LANCASTER, G ;

MOHYUDDIN, F ;

SCRIVER, CR ;

WHELAN, DT .

BIOCHIMICA ET BIOPHYSICA ACTA, 1973, 297 (02) :229-240

[10]

LEE CR, 1977, BIOCH MED, V17, P184

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