Anne Davit-Spraul Selected Research

progressive familial intrahepatic 1 Cholestasis

1/2021	Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
1/2020	Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
1/2017	MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
8/2015	Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.
1/2015	Improvement of hepatocyte transplantation efficiency in the mdr2-/- mouse model by glyceryl trinitrate.
12/2012	NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
9/2012	Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2.
11/2010	Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
5/2010	The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.
5/2010	ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

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Anne Davit-Spraul Research Topics

Disease

11	Cholestasis 01/2021 - 01/2009
11	progressive familial intrahepatic 1 Cholestasis 01/2021 - 01/2009
6	Liver Diseases (Liver Disease) 01/2021 - 01/2009
3	Cholelithiasis 05/2010 - 01/2009
2	Liver Failure 12/2017 - 05/2010
2	Cytomegalovirus Infections (Inclusion Disease) 01/2017 - 07/2014
2	Pruritus (Itching) 08/2015 - 07/2014
2	Fibrosis (Cirrhosis) 01/2015 - 05/2010
2	Intrahepatic Cholestasis of Pregnancy 12/2012 - 05/2010
2	progressive familial intrahepatic 3 Cholestasis 05/2010 - 01/2009
1	Hypermethioninemia 01/2021
1	Epilepsy (Aura) 01/2021
1	Zellweger Syndrome (Zellweger's Syndrome) 12/2017
1	Liver Cirrhosis (Hepatic Cirrhosis) 12/2017
1	Intestinal Diseases (Diseases, Intestinal) 01/2017
1	Microvillus inclusion disease 01/2017
1	Metabolic Diseases (Metabolic Disease) 01/2015
1	Jaundice (Icterus) 07/2014
1	Diarrhea 07/2014
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 07/2014
1	Tyrosinemias (Tyrosinemia) 05/2012
1	Glycogen Storage Disease (Glycogenosis) 09/2011
1	Hepatomegaly 09/2011
1	Hypoglycemia (Reactive Hypoglycemia) 09/2011
1	Hepatocellular Carcinoma (Hepatoma) 05/2010
1	Chemical and Drug Induced Liver Injury 05/2010
1	Adrenal hyperplasia 2 10/2009
1	Intrahepatic Cholestasis 01/2009
1	Biliary Liver Cirrhosis (Primary Biliary Cirrhosis) 01/2009
1	Fructose Intolerance (Intolerance, Fructose) 08/2008
1	Non-alcoholic Fatty Liver Disease 10/2005
1	Inflammation (Inflammations) 10/2005

Drug/Important Bio-Agent (IBA)

6	Member 11 Subfamily B ATP Binding Cassette TransporterIBA 01/2021 - 05/2010
4	Bile Acids and Salts (Bile Acids)IBA 12/2017 - 05/2010
2	TransferasesIBA 01/2017 - 05/2010
2	Biological ProductsIBA 01/2016 - 09/2012
2	4-phenylbutyric acid (Buphenyl)FDA Link 08/2015 - 09/2012
2	Pharmaceutical PreparationsIBA 12/2012 - 01/2009
2	Ursodeoxycholic Acid (Urso)FDA LinkGeneric 05/2010 - 01/2009
2	Phospholipids (Phosphatides)FDA LinkGeneric 05/2010 - 01/2009
2	EnzymesIBA 08/2008 - 10/2005
1	Methionine (L-Methionine)FDA Link 01/2021
1	Adenosine KinaseIBA 01/2021
1	Cholic AcidIBA 12/2017
1	Oxidoreductases (Dehydrogenase)IBA 12/2017
1	Myosins (Myosin)IBA 01/2017
1	Hormones (Hormone)IBA 01/2016
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2016
1	Nitroglycerin (Dynamite)FDA LinkGeneric 01/2015
1	LipidsIBA 01/2015
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 07/2014
1	Mitochondrial DNA (mtDNA)IBA 01/2014
1	Dacarbazine (DIC)FDA LinkGeneric 12/2012
1	DioxygenasesIBA 05/2012
1	Pyruvic Acid (Pyruvate)IBA 05/2012
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 05/2012
1	Transaminases (Aminotransferases)IBA 09/2011
1	Phosphorylases (Glucan Phosphorylase)IBA 09/2011
1	EpitopesIBA 11/2010
1	Immunoglobulin G (IgG)IBA 11/2010
1	AntibodiesIBA 11/2010
1	Alanine Transaminase (SGPT)IBA 05/2010
1	Fructose-Bisphosphate Aldolase (Aldolase)IBA 08/2008
1	CatalaseIBA 10/2005
1	Superoxide DismutaseIBA 10/2005
1	AntioxidantsIBA 10/2005
1	Thiobarbituric Acid Reactive SubstancesIBA 10/2005
1	thiobarbituric acidIBA 10/2005

Therapy/Procedure

6	Liver Transplantation 01/2020 - 01/2009
5	Therapeutics 12/2017 - 01/2009
3	Transplantation 01/2015 - 10/2005
1	Drug Therapy (Chemotherapy) 08/2015
1	Cell- and Tissue-Based Therapy (Cell Therapy) 01/2009