3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman

被引：19

作者：

Kobayashi, M

Koike, M

Sakiyama, M

Okuda, S

Okuda, M

Tanaka, T

Unno, A

Nittono, H

Takei, H

Murai, T

Yoshimura, T

Kurosawa, T

机构：

[1] Wakayama Med Coll, Dept Pediat, Wakayama 6410012, Japan

[2] Wakayama Med Coll, Dept Microbiol, Wakayama 6410012, Japan

[3] Juntendo Univ, Sch Med, Dept Pediat, Tokyo 113, Japan

[4] Junshin Clin, Yokohama, Kanagawa, Japan

[5] Tokyo Hlth Serv Assoc, Tokyo, Japan

[6] Hlth Sci Univ Hokkaido, Fac Pharmaceut Sci, Ishikari, Hokkaido 06102, Japan

来源：

PEDIATRICS INTERNATIONAL | 2000年 / 42卷 / 06期

关键词：

adult; follow up; 3 beta-hydroxy-Delta(5)-C-27-steroid dehydrogenase/isomerase deficiency; treatment;

D O I：

10.1046/j.1442-200x.2000.01292.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

引用

页码：685 / 688

页数：4

共 6 条

[1]

LACK OF 3-BETA-HYDROXY-DELTA-5-C-27-STEROID DEHYDROGENASE ISOMERASE IN FIBROBLASTS FROM A CHILD WITH URINARY-EXCRETION OF 3-BETA-HYDROXY-DELTA-5-C-27-BILE ACIDS - A NEW INBORN ERROR OF METABOLISM [J].

BUCHMANN, MS ;

KVITTINGEN, EA ;

NAZER, H ;

GUNASEKARAN, T ;

CLAYTON, PT ;

SJOVALL, J ;

BJORKHEM, I .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (06) :2034-2037

[2]

FAMILIAL GIANT-CELL HEPATITIS ASSOCIATED WITH SYNTHESIS OF 3-BETA, 7-ALPHA-DIHYDROXY-5-CHOLENOIC AND 3-BETA, 7-ALPHA, 12-ALPHA-TRIHYDROXY-5-CHOLENOIC ACIDS [J].

CLAYTON, PT ;

LEONARD, JV ;

LAWSON, AM ;

SETCHELL, KDR ;

ANDERSSON, S ;

EGESTAD, B ;

SJOVALL, J .

JOURNAL OF CLINICAL INVESTIGATION, 1987, 79 (04) :1031-1038

[3]

ICHIMIYA H, 1991, J LIPID RES, V32, P829

[4]

TREATMENT OF CHRONIC LIVER-DISEASE CAUSED BY 3-BETA-HYDROXY-DELTA-5-C27-STEROID DEHYDROGENASE-DEFICIENCY WITH CHENODEOXYCHOLIC ACID [J].

ICHIMIYA, H ;

NAZER, H ;

GUNASEKARAN, T ;

CLAYTON, P ;

SJOVALL, J .

ARCHIVES OF DISEASE IN CHILDHOOD, 1990, 65 (10) :1121-1124

[5]

JACCQUEMIN E, 1994, J PEDIATR, V125, P379

[6]

KOBAYASHI M, 1998, JPN J PEDIAT GASTROE, V2, P161

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