Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
2005 1
2014 1
2017 1
2019 1
2020 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld EA, Brown RS Jr. Schonfeld EA, et al. Clin Liver Dis. 2017 Nov;21(4):673-686. doi: 10.1016/j.cld.2017.06.001. Epub 2017 Jul 29. Clin Liver Dis. 2017. PMID: 28987255 Review.
This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndro …
This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic …
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG, Geier A. Dietrich CG, et al. Expert Opin Drug Metab Toxicol. 2014 Nov;10(11):1533-51. doi: 10.1517/17425255.2014.963553. Epub 2014 Sep 26. Expert Opin Drug Metab Toxicol. 2014. PMID: 25260651 Review.
The review covers progressive hereditary cholestatic syndromes as well as recurrent or transient cholestatic syndromes such as drug-induced liver injury, intrahepatic cholestasis of pregnancy, and benign recurrent intrahepatic cholesta …
The review covers progressive hereditary cholestatic syndromes as well as recurrent or transient cholestatic syndromes such as drug-i …
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT, Li ZD, Yang Y, Lu Y, Xie XB, Chen L, Feng JY, Knisely AS, Wang JS. Li LT, et al. Liver Int. 2020 Nov;40(11):2788-2796. doi: 10.1111/liv.14642. Epub 2020 Oct 13. Liver Int. 2020. PMID: 32808743
BACKGROUND & AIMS: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholestasis (TNC). …
BACKGROUND & AIMS: ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis …
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P. Sohail MI, et al. Int J Mol Sci. 2021 Jan 14;22(2):784. doi: 10.3390/ijms22020784. Int J Mol Sci. 2021. PMID: 33466755 Free PMC article. Review.
Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2) and intrahepatic cholestasis of pregnancy (ICP). ...In this re …
Malfunction of this transporter results in progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recu …
Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
Schonfeld EA, Brown RS Jr. Schonfeld EA, et al. Med Clin North Am. 2019 Nov;103(6):991-1003. doi: 10.1016/j.mcna.2019.07.003. Med Clin North Am. 2019. PMID: 31582009 Review.
The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and li …
The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indire …
Benign recurrent intrahepatic cholestasis: treatment with S-adenosylmethionine.
Everson GT, Ahnen D, Harper PC, Krawitt EL. Everson GT, et al. Gastroenterology. 1989 May;96(5 Pt 1):1354-7. doi: 10.1016/s0016-5085(89)80024-1. Gastroenterology. 1989. PMID: 2703120
S-Adenosylmethionine (800 mg i.v. per day) was used to treat two brothers and a brother and sister from each of two kindreds with benign recurrent intrahepatic cholestasis. Symptoms, routine tests of liver function, concentrations of total bile acids, …
S-Adenosylmethionine (800 mg i.v. per day) was used to treat two brothers and a brother and sister from each of two kindreds with benign …
Transcriptional regulation of hepatobiliary transport systems in health and disease: implications for a rationale approach to the treatment of intrahepatic cholestasis.
Wagner M, Trauner M. Wagner M, et al. Ann Hepatol. 2005 Apr-Jun;4(2):77-99. Ann Hepatol. 2005. PMID: 16010241 Free article. Review.
Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various clinical conditions including progressive familial intrahepatic cholestasis (PFIC) 1-3 or its milder forms, benign recurrent int …
Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various clinical conditions …