cholic acid and Inborn Errors of Metabolism

cholic acid has been researched along with Inborn Errors of Metabolism in 13 studies

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19902 (15.38)18.7374
1990's4 (30.77)18.2507
2000's2 (15.38)29.6817
2010's4 (30.77)24.3611
2020's1 (7.69)2.80

Authors

AuthorsStudies
Ravindranath, A; Sen Sarma, M; Yachha, SK1
Almanza-Miranda, E; Mora, MTG; Ordoñez-Gutiérrez, E; Peña-Vélez, R; Piña-Aguilar, RE1
Bove, KE; Heubi, JE; Setchell, KDR1
Gioiello, A; Heubi, J; Jha, P; Pellicciari, R; Setchell, KD; Wang, J; Wolfe, B; Zhang, W1
Bernard, O; Davit-Spraul, A; Fabre, M; Gerhardt, MF; Gonzales, E; Heubi, JE; Jacquemin, E; Setchell, KD; Vincent, I1
Jankowska, I; Socha, P1
Casteels, M; Clayton, PT; Lawson, AM; Mieli-Vergani, G1
Jonas, MM; Perez-Atayde, AR; Siafakas, CG1
Kai, MH; Kondo, KH; Setoguchi, T1
Davis, DL; Lathe, R; Lund, EG; O'Connell, NC; Russell, DW; Schwarz, M; Setchell, KD; Sokol, RJ; Thompson, HR; Weslie Tyson, R1
Kobayashi, M; Koike, M; Kurosawa, T; Murai, T; Nittono, H; Okuda, M; Okuda, S; Sakiyama, M; Takei, H; Tanaka, T; Unno, A; Yoshimura, T1
Poulos, A; Whiting, MJ1
Hofmann, AF; Strandvik, B1

Reviews

2 review(s) available for cholic acid and Inborn Errors of Metabolism

ArticleYear
Inborn Errors of Bile Acid Metabolism.
    Clinics in liver disease, 2018, Volume: 22, Issue:4

    Topics: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase; Acyl-CoA Oxidase; Adrenal Hyperplasia, Congenital; Amino-Acid N-Acetyltransferase; Bile Acids and Salts; Cholestasis; Cholic Acid; Genetic Testing; Humans; Liver Diseases; Metabolism, Inborn Errors; Racemases and Epimerases; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous

2018
[Delta 4-3-oxosteroid 5 beta-reductase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    Topics: Bile Acids and Salts; Biomarkers; Chenodeoxycholic Acid; Cholagogues and Choleretics; Cholic Acid; Cholic Acids; Diagnosis, Differential; Humans; Infant, Newborn; Metabolism, Inborn Errors; Oxidoreductases; Prognosis; Ursodeoxycholic Acid

1998

Trials

1 trial(s) available for cholic acid and Inborn Errors of Metabolism

ArticleYear
Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.
    Gastroenterology, 2009, Volume: 137, Issue:4

    Topics: 3-Hydroxysteroid Dehydrogenases; Administration, Oral; Adolescent; Bile Acids and Salts; Biopsy; Child; Child, Preschool; Cholagogues and Choleretics; Cholic Acid; Drug Administration Schedule; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Liver; Male; Metabolism, Inborn Errors; Oxidoreductases; Prospective Studies; Spectrometry, Mass, Fast Atom Bombardment; Time Factors; Treatment Outcome

2009

Other Studies

10 other study(ies) available for cholic acid and Inborn Errors of Metabolism

ArticleYear
Bile acid synthetic defects: Simplified approach in a nutshell.
    Hepatobiliary & pancreatic diseases international : HBPD INT, 2020, Volume: 19, Issue:1

    Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Cholesterol; Cholic Acid; Enzymes; Humans; Liver Diseases; Metabolism, Inborn Errors

2020
[Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliares].
    Boletin medico del Hospital Infantil de Mexico, 2018, Volume: 75, Issue:5

    Topics: 3-Hydroxysteroid Dehydrogenases; Bile Acids and Salts; Cholestasis; Cholic Acid; Humans; Infant; Jaundice; Male; Metabolism, Inborn Errors

2018
Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.
    Clinical chemistry, 2015, Volume: 61, Issue:7

    Topics: 3-Hydroxysteroid Dehydrogenases; Bile Acids and Salts; Child; Child, Preschool; Cholestasis; Cholic Acid; Cholic Acids; Chromatography, High Pressure Liquid; Chromatography, Liquid; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Limit of Detection; Metabolism, Inborn Errors; Reproducibility of Results; Spectrometry, Mass, Electrospray Ionization; Sulfates; Tandem Mass Spectrometry; Urinalysis

2015
Progressive familial intrahepatic cholestasis and inborn errors of bile acid synthesis.
    Clinics and research in hepatology and gastroenterology, 2012, Volume: 36, Issue:3

    Topics: Avitaminosis; Bile Acids and Salts; Chenodeoxycholic Acid; Child; Cholestasis, Intrahepatic; Cholic Acid; Digestive System Surgical Procedures; gamma-Glutamyltransferase; Gastrointestinal Agents; Growth Disorders; Hepatomegaly; Humans; Jaundice; Metabolism, Inborn Errors; Pruritus; Splenomegaly; Transaminases

2012
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
    Pediatric research, 1995, Volume: 37, Issue:4 Pt 1

    Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanols; Cholestasis; Cholic Acid; Cholic Acids; Follow-Up Studies; Giant Cells; Hepatitis; Humans; Infant; Male; Metabolism, Inborn Errors; Molecular Structure

1995
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis.
    Journal of pediatric gastroenterology and nutrition, 1997, Volume: 25, Issue:3

    Topics: Adult; Bile Acids and Salts; Biopsy; Cholestasis, Intrahepatic; Cholic Acid; Cholic Acids; Female; Gas Chromatography-Mass Spectrometry; Hemochromatosis; Humans; Infant, Newborn; Liver; Liver Failure; Male; Metabolism, Inborn Errors; Oxidoreductases; Prognosis; Spectrometry, Mass, Fast Atom Bombardment; Ursodeoxycholic Acid

1997
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
    The Journal of clinical investigation, 1998, Nov-01, Volume: 102, Issue:9

    Topics: Amino Acid Sequence; Animals; Base Sequence; Bile Acids and Salts; Cell Line, Transformed; CHO Cells; Cholic Acid; Cricetinae; Cytochrome P-450 Enzyme System; Cytochrome P450 Family 7; DNA, Complementary; Humans; Infant; Liver; Liver Diseases; Liver Transplantation; Male; Metabolism, Inborn Errors; Microsomes, Liver; Molecular Sequence Data; Mutation; Steroid Hydroxylases; Sterols

1998
3beta-hydroxy-delta5-C27-steroid dehydrogenase/isomerase deficiency in a 23-year-old woman.
    Pediatrics international : official journal of the Japan Pediatric Society, 2000, Volume: 42, Issue:6

    Topics: 3-Hydroxysteroid Dehydrogenases; Adult; Chenodeoxycholic Acid; Cholic Acid; Female; Humans; Liver; Liver Cirrhosis; Metabolism, Inborn Errors; Steroid Isomerases; Ursodeoxycholic Acid; Vitamin K Deficiency

2000
Identification of 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestan-26-oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease.
    Journal of inherited metabolic disease, 1985, Volume: 8, Issue:1

    Topics: Bile Acids and Salts; Cholestanols; Cholic Acid; Cholic Acids; Chromatography, Gas; Fatty Acids; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Pipecolic Acids; Refsum Disease

1985
Defective bile acid amidation: predicted features of a new inborn error of metabolism.
    Lancet (London, England), 1988, Aug-06, Volume: 2, Issue:8606

    Topics: Bile Acids and Salts; Biliary Tract; Cholic Acid; Cholic Acids; Glycine; Humans; Intestinal Mucosa; Liver; Metabolism, Inborn Errors; Taurine

1988