Identification of a unique inborn error in bile acid conjugation involving a deficiency in amidation

被引：0

作者：

Setchell, KDR ^{[1
]}

Heubi, JE ^{[1
]}

O'Connell, NC ^{[1
]}

Hofmann, AF ^{[1
]}

Lavine, JE ^{[1
]}

机构：

[1] Childrens Hosp, Med Ctr, Cincinnati, OH 45229 USA

来源：

BILE ACIDS IN HEPATOBILIARY DISEASES: BASIC RESEARCH AND CLINICAL APPLICATION | 1997年 / 93卷

关键词：

D O I：

暂无

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：43 / 47

页数：5

共 47 条

[41] A NEW INBORN ERROR IN BILE-ACID SYNTHESIS ASSOCIATED WITH INCREASED SYNTHESIS OF DELTA-4-3-OXO AND ALLO-BILE ACIDS DESCRIBED IN TWINS WITH FAMILIAL GIANT-CELL HEPATITIS
SETCHELL, KDR
SUCHY, FJ
WELSH, MB
ZIMMERNECHEMIAS, L
BALISTRERI, WF
GASTROENTEROLOGY, 1988, 94 (05) : A590 - A590
[42] PROGRESSIVE INTRAHEPATIC CHOLESTASIS WITH NORMAL GAMMA-GLUTAMYL-TRANSFERASE IS HIGHLY ASSOCIATED WITH THE 3-BETA-HYDROXYSTEROID DEHYDROGENASE SOMERASE DEFICIENCY, AN INBORN ERROR IN BILE-ACID SYNTHESIS - A NEW CATEGORY OF METABOLIC LIVER-DISEASE
SETCHELL, KDR
PICCOLI, DA
OCONNELL, NC
JACQUEMIN, E
BERNARD, O
HEPATOLOGY, 1993, 18 (04) : A178 - A178
[43] A UNIQUE AMINO-ACID SUBSTITUTION IN THE OUTER-MEMBRANE PROTEIN OMPA CAUSES CONJUGATION DEFICIENCY IN ESCHERICHIA-COLI K-12
RIED, G
HENNING, U
FEBS LETTERS, 1987, 223 (02) : 387 - 390
[44] Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism
Johannes Zschocke
Jos P N Ruiter
Jochen Brand
Martin Lindner
Georg F Hoffmann
Ronald J A Wanders
Ertan Mayatepek
Pediatric Research, 2000, 48 : 852 - 855
[45] Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
Zschocke, J
Ruiter, JPN
Brand, J
Lindner, M
Hoffmann, GF
Wanders, RJA
Mayatepek, E
PEDIATRIC RESEARCH, 2000, 48 (06) : 852 - 855
[46] REFSUMS DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS) - AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID .2. ISOLATION AND IDENTIFICATION OF STORAGE PRODUCT
KAHLKE, W
RICHTERICH, R
AMERICAN JOURNAL OF MEDICINE, 1965, 39 (02): : 237 - +
[47] METABOLISM OF 3-ALPHA, 7-ALPHA, 12-ALPHA-TRIHYDROXY-5-BETA-CHOLESTAN-26-OIC ACID IN 2 SIBLINGS WITH CHOLESTASIS DUE TO INTRAHEPATIC BILE-DUCT ANOMALIES - APPARENT INBORN ERROR OF CHOLIC ACID SYNTHESIS
HANSON, RF
NEVINISENBERG, J
WILLIAMS, GC
HACHEY, D
SZCZEPANIK, P
KLEIN, PD
SHARP, HL
JOURNAL OF CLINICAL INVESTIGATION, 1975, 56 (03): : 577 - 587

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