A FAMILIAL PROGRESSIVE NEURODEGENERATIVE DISEASE WITH 2-OXOGLUTARIC ACIDURIA

被引：51

作者：

KOHLSCHUTTER, A

BEHBEHANI, A

LANGENBECK, U

ALBANI, M

HEIDEMANN, P

HOFFMANN, G

KLEINEKE, J

LEHNERT, W

WENDEL, U

机构：

[1] UNIV GOTTINGEN,DEPT PEDIAT,D-3400 GOTTINGEN,FED REP GER

[2] UNIV GOTTINGEN,INST HUMAN GENET,D-3400 GOTTINGEN,FED REP GER

[3] UNIV GOTTINGEN,DEPT INTERNAL MED,D-3400 GOTTINGEN,FED REP GER

[4] UNIV FREIBURG,DEPT PEDIAT,D-7800 FREIBURG,FED REP GER

[5] UNIV DUSSELDORF,CHILDRENS HOSP C,D-4000 DUSSELDORF 1,FED REP GER

来源：

关键词：

D O I：

10.1007/BF00442325

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：32 / 37

页数：6

共 34 条

[1] BERGMEYER HU, 1974, METHODEN ENZYMATISCH, V2
[2] Chalmers R A, 1980, J Inherit Metab Dis, V3, P27, DOI 10.1007/BF02312520
[3] GAS-CHROMATOGRAPHIC AND MASS-SPECTROMETRIC STUDIES ON URINARY ORGANIC-ACIDS IN A PATIENT WITH CONGENITAL LACTIC-ACIDOSIS DUE TO PYRUVATE DECARBOXYLASE DEFICIENCY
CHALMERS, RA
LAWSON, AM
BORUD, O
[J]. CLINICA CHIMICA ACTA, 1977, 77 (02) : 117 - 124
[4] STUDIES ON A PATIENT WITH INVIVO EVIDENCE OF TYPE-I GLYCOGENOSIS AND NORMAL ENZYME-ACTIVITIES INVITRO
CHALMERS, RA
RYMAN, BE
WATTS, RWE
[J]. ACTA PAEDIATRICA SCANDINAVICA, 1978, 67 (02): : 201 - 207
[5] INFANTILE CHRONIC NECROTIZING ENCEPHALOPATHY
CHRISTENSEN, E
MELCHIOR, JC
PLUM, P
[J]. ACTA PAEDIATRICA, 1963, 52 (03) : 304 - +
[6] COHEN JJ, 1964, RENAL METABOLISM EPI, P126
[7] MASSIVE EXCRETION OF 2-OXOGLUTARIC ACID AND 3-HYDROXYISOVALERIC ACID IN A PATIENT WITH A DEFICIENCY OF 3-METHYLCROTONYL-COA CARBOXYLASE
FINNIE, MDA
COTTRALL, K
SEAKINS, JWT
SNEDDEN, W
[J]. CLINICA CHIMICA ACTA, 1976, 73 (03) : 513 - 519
[8] GLUTARIC ACIDURIA - NEW DISORDER OF AMINO-ACID METABOLISM
GOODMAN, SI
MARKEY, SP
MOE, PG
MILES, BS
TENG, CC
[J]. BIOCHEMICAL MEDICINE, 1975, 12 (01): : 12 - 21
[9] GOODMAN SI, 1977, J PEDIATR-US, V90, P746, DOI 10.1016/S0022-3476(77)81240-7
[10] GLUTARIC-ACIDURIA - CLINICAL AND LABORATORY FINDINGS IN 2 BROTHERS
GREGERSEN, N
BRANDT, NJ
CHRISTENSEN, E
GRON, I
RASMUSSEN, K
BRANDT, S
[J]. JOURNAL OF PEDIATRICS, 1977, 90 (05) : 740 - 745