3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman. 2000

M Kobayashi, and M Koike, and M Sakiyama, and S Okuda, and M Okuda, and T Tanaka, and A Unno, and H Nittono, and H Takei, and T Murai, and T Yoshimura, and T Kurosawa
Department of Pediatrics, Wakayama Medical College, Wakayama City, Japan. kobayashi@mail.wakayama-med.ac.jp

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008103 Liver Cirrhosis Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Cirrhosis, Liver,Fibrosis, Liver,Hepatic Cirrhosis,Liver Fibrosis,Cirrhosis, Hepatic
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D002635 Chenodeoxycholic Acid A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones. Chenic Acid,Chenodeoxycholate,Chenodiol,Gallodesoxycholic Acid,Chenique Acid,Chenix,Chenofalk,Chenophalk,Henohol,Quenobilan,Quenocol,Sodium Chenodeoxycholate,Acid, Chenic,Acid, Chenique,Acid, Chenodeoxycholic,Acid, Gallodesoxycholic,Chenodeoxycholate, Sodium
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013251 Steroid Isomerases Enzymes that catalyze the transposition of double bond(s) in a steroid molecule. EC 5.3.3. 3-Ketosteroid Isomerases,3-Oxosteroid Isomerases,3 Ketosteroid Isomerases,3 Oxosteroid Isomerases,Isomerases, 3-Ketosteroid,Isomerases, 3-Oxosteroid,Isomerases, Steroid
D014580 Ursodeoxycholic Acid An epimer of chenodeoxycholic acid. It is a mammalian bile acid found first in the bear and is apparently either a precursor or a product of chenodeoxycholate. Its administration changes the composition of bile and may dissolve gallstones. It is used as a cholagogue and choleretic. Deoxyursocholic Acid,3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid,Cholit-Ursan,Cholofalk,Delursan,Destolit,Sodium Ursodeoxycholate,Urdox,Ursacholic Acid,Urso,Urso Heumann,Ursobilane,Ursochol,Ursodiol,Ursofalk,Ursogal,Ursolite,Ursolvan,3 alpha,7 beta Dihydroxy 5 beta cholan 24 oic Acid,Acid, Deoxyursocholic,Acid, Ursacholic,Acid, Ursodeoxycholic,Ursodeoxycholate, Sodium
D014813 Vitamin K Deficiency A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182) Deficiency, Vitamin K,Deficiencies, Vitamin K,Vitamin K Deficiencies

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