OPHTHALMOLOGICAL, PSYCHOMETRIC AND THERAPEUTIC INVESTIGATION IN 2 SISTERS WITH HEREDITARY GLUTATHIONE SYNTHETASE DEFICIENCY (5-OXOPROLINURIA)

被引：22

作者：

LARSSON, A

WACHTMEISTER, L

VONWENDT, L

ANDERSSON, R

HAGENFELDT, L

HERRIN, KM

机构：

[1] KAROLINSKA INST,HUDDINGE UNIV HOSP,DEPT OPHTHALMOL,S-14186 HUDDINGE,SWEDEN

[2] REG HOSP BODEN,DEPT PEDIAT,S-96185 BODEN,SWEDEN

[3] KAROLINSKA HOSP,DEPT CLIN CHEM,S-10401 STOCKHOLM 60,SWEDEN

[4] KAROLINSKA INST,ST GORANS CHILDRENS HOSP,DEPT PEDIAT,S-11281 STOCKHOLM,SWEDEN

来源：

NEUROPEDIATRICS | 1985年 / 16卷 / 03期

关键词：

D O I：

10.1055/s-2008-1052557

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：131 / 136

页数：6

共 34 条

[1]

BANNAI S, 1979, J BIOL CHEM, V254, P3444

[2]

BOXER LA, 1979, N ENGL J MED, V301, P910

[3]

COPENHAVER RM, 1960, ARCH OPHTHALMOL-CHIC, V63, P559

[4] TRANSLOCATION OF INTRACELLULAR GLUTATHIONE TO MEMBRANE-BOUND GAMMA-GLUTAMYL TRANSPEPTIDASE AS A DISCRETE STEP IN THE GAMMA-GLUTAMYL CYCLE - GLUTATHIONURIA AFTER INHIBITION OF TRANSPEPTIDASE [J].

GRIFFITH, OW ;

MEISTER, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (01) :268-272

[5] GAMMA-GLUTAMYL CYCLE AND AMINO-ACID TRANSPORT - STUDIES OF FREE AMINO-ACIDS, GAMMA-GLUTAMYL-CYSTEINE AND GLUTATHIONE IN ERYTHROCYTES FROM PATIENTS WITH 5-OXOPROLINURIA (GLUTATHIONE SYNTHETASE DEFICIENCY) [J].

HAGENFELDT, L ;

LARSSON, A ;

ANDERSSON, R .

NEW ENGLAND JOURNAL OF MEDICINE, 1978, 299 (11) :587-590

[6] ELECTRORETINOGRAM AND VISUAL EVOKED-RESPONSE IN A FORM OF NEURONAL LIPIDOSIS WITH DIAGNOSTIC EEG FEATURES [J].

HARDEN, A ;

PAMPIGLIONE, G ;

PICTONRO.N .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1973, 36 (01) :61-67

[7]

HELLSTROM B, 1956, J EXPT CHEM RES, V10, P248

[8] PYROGLUTAMIC ACIDURIA - A NEW INBORN ERROR OF METABOLISM [J].

JELLUM, E ;

KLUGE, T ;

BORRESEN, HC ;

STOKKE, O ;

ELDJARN, L .

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1970, 26 (04) :327-&

[9]

JENSEN G, 1982, JUN P INT S HUM AN M

[10]

Jensen G E, 1978, Scand J Clin Lab Invest, V38, P309, DOI 10.3109/00365517809108429

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