THE 1ST ADULT CASE WITH 4-HYDROXYBUTYRIC ACIDURIA

被引：24

作者：

JAKOBS, C

SMIT, LME

KNEER, J

MICHAEL, T

GIBSON, KM

机构：

[1] FREE UNIV BERLIN,CHILDRENS HOSP,W-1000 BERLIN 33,GERMANY

[2] BAYLOR UNIV,MED CTR,WACO,TX 76798

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 03期

关键词：

D O I：

10.1007/BF01799390

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：341 / 344

页数：4

共 9 条

[1]

DEVIVO DC, 1988, ANN NEUROL, V24, pA304

[2] SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH COMBINED 4-HYDROXYBUTYRIC AND DICARBOXYLIC ACIDURIAS - POTENTIAL FOR CLINICAL MIS-DIAGNOSIS BASED ON URINARY ORGANIC-ACID PROFILING [J].

GIBSON, KM ;

GOODMAN, SI ;

FRERMAN, FE ;

GLASGOW, AM .

JOURNAL OF PEDIATRICS, 1989, 114 (04) :607-610

[3] 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

[4]

GIBSON KM, 1990, J BIOMED ENV MASS SP, V19, P89

[5] 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

[6] 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

[7] OXIDATION OF [U-C-14]SUCCINIC SEMIALDEHYDE IN CULTURED HUMAN-LYMPHOBLASTS - MEASUREMENT OF RESIDUAL SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITY IN 11 PATIENTS WITH 4-HYDROXYBUTYRIC ACIDURIA [J].

PATTARELLI, PP ;

NYHAN, WL ;

GIBSON, KM .

PEDIATRIC RESEARCH, 1988, 24 (04) :455-460

[8] 4-HYDROXYBUTYRIC ACIDURIA - A NEW INBORN ERROR OF METABOLISM .1. CLINICAL REVIEW [J].

RATING, D ;

HANEFELD, F ;

SIEMES, H ;

KNEER, J ;

JAKOBS, C ;

HERMIER, M ;

DIVRY, P .

JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 :90-92

[9]

ROESEL R A, 1987, American Journal of Human Genetics, V41, pA16

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