UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 44

Sortiert nach

A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3

Hepatology (Baltimore, Md.), 2016-05, Vol.63 (5), p.1620-1631

2016

Link zum Volltext

Verfügbarkeit prüfen

Progressive familial intrahepatic cholestasis

Orphanet journal of rare diseases, 2009-01, Vol.4 (1), p.1-1, Article 1

2009

Link zum Volltext

Verfügbarkeit prüfen

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study

Hepatology (Baltimore, Md.), 2021-04, Vol.73 (4), p.1449-1463

2021

Link zum Volltext

Verfügbarkeit prüfen

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency

Liver international, 2020-08, Vol.40 (8), p.1917-1925

2020

Link zum Volltext

Verfügbarkeit prüfen

Oral Cholic Acid for Hereditary Defects of Primary Bile Acid Synthesis: A Safe and Effective Long-term Therapy

Gastroenterology (New York, N.Y. 1943), 2009-10, Vol.137 (4), p.1310-1320.e3

2009

Link zum Volltext

Verfügbarkeit prüfen

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

Hepatology (Baltimore, Md.), 2010-05, Vol.51 (5), p.1645-1655

2010

Link zum Volltext

Verfügbarkeit prüfen

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4‐phenylbutyrate

Hepatology (Baltimore, Md.), 2015-08, Vol.62 (2), p.558-566

2015

Link zum Volltext

Verfügbarkeit prüfen

A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes

Journal of pediatric gastroenterology and nutrition, 2020-01, Vol.70 (1), p.e24-e25

2020

Link zum Volltext

Verfügbarkeit prüfen

MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease

Hepatology (Baltimore, Md.), 2017-01, Vol.65 (1), p.164-173

2017

Link zum Volltext

Verfügbarkeit prüfen

TGR5-dependent hepatoprotection through the regulation of biliary epithelium barrier function

Gut, 2020-01, Vol.69 (1), p.146

2020

Link zum Volltext

Verfügbarkeit prüfen

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

Hepatology (Baltimore, Md.), 2014-07, Vol.60 (1), p.301-310

2014

Link zum Volltext

Verfügbarkeit prüfen

Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver disease

Liver international, 2005-10, Vol.25 (5), p.946-953

2005

Link zum Volltext

Verfügbarkeit prüfen

4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.383-383, Article 383

2023

Link zum Volltext

Verfügbarkeit prüfen

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

PloS one, 2016-02, Vol.11 (2), p.e0147750-e0147750

2016

Link zum Volltext

Verfügbarkeit prüfen

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Journal of pediatric gastroenterology and nutrition, 2008-01, Vol.46 (1), p.111-112

2008

Link zum Volltext

Verfügbarkeit prüfen

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene

Molecular genetics and metabolism, 2014-11, Vol.113 (3), p.225-229

2014

Link zum Volltext

Verfügbarkeit prüfen

Improvement of hepatocyte transplantation efficiency in the mdr2-/- mouse model by glyceryl trinitrate

Transplantation, 2015-01, Vol.99 (1), p.36

2015

Link zum Volltext

Verfügbarkeit prüfen

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

JHEP reports, 2023-10, Vol.5 (10), p.100844-100844, Article 100844

2023

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

Journal of pediatric gastroenterology and nutrition, 2010-04, Vol.50 (4), p.447-449

2010

Link zum Volltext

Verfügbarkeit prüfen

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

Seminars in liver disease, 2010-05, Vol.30 (2), p.134

2010

Link zum Volltext

Verfügbarkeit prüfen

Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations

Journal of pediatric gastroenterology and nutrition, 2024-03

2024

Link zum Volltext

Verfügbarkeit prüfen

Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2

Journal of hepatology, 2012-09, Vol.57 (3), p.695-698

2012

Link zum Volltext

Verfügbarkeit prüfen

Simple and Fast Quantification of Nitisone (NTBC) using Liquid Chromatography-Tandem Mass Spectrometry Method in Plasma of Tyrosinemia Type 1 Patients

Journal of chromatographic science, 2012-05, Vol.50 (5), p.446-449

2012

Link zum Volltext

Verfügbarkeit prüfen

Biomarkers of oxidative stress: an analytical approach

Current opinion in clinical nutrition and metabolic care, 2000-09, Vol.3 (5), p.373-384

2000

Link zum Volltext

Verfügbarkeit prüfen

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

JPGN reports, 2023-08, Vol.4 (3), p.e338-e338

2023

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 44

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(43)
Mit Volltextzugriff
(41)

Publikationsform

Sprache

Englisch
(44)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

Science & Technology
(35)
Life Sciences & Biomedicine
(34)
Humans
(28)
Gastroenterology & Hepatology
(20)
Female
(12)
Infant
(12)
Male
(12)
Mutation
(12)
Cholestasis, Intrahepatic - Genetics
(11)
Child
(10)
Child, Preschool
(10)
Biological And Medical Sciences
(9)
Hepatology
(9)
Medical Sciences
(9)
Cholestasis
(8)
Animals
(7)
Bile
(7)
Gastroenterology. Liver. Pancreas. Abdomen
(7)
Genetics & Heredity
(7)
Liver. Biliary Tract. Portal Circulation. Exocrine Pancreas
(7)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3

Progressive familial intrahepatic cholestasis

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency

Oral Cholic Acid for Hereditary Defects of Primary Bile Acid Synthesis: A Safe and Effective Long-term Therapy

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

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4‐phenylbutyrate

A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes

MYO5B mutations cause cholestasis with normal serum gamma‐glutamyl transferase activity in children without microvillous inclusion disease

TGR5-dependent hepatoprotection through the regulation of biliary epithelium barrier function

MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease

Increase in liver antioxidant enzyme activities in non-alcoholic fatty liver disease

4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene

Improvement of hepatocyte transplantation efficiency in the mdr2-/- mouse model by glyceryl trinitrate

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy

Heterozygous FIC1 Deficiency: A New Genetic Predisposition to Transient Neonatal Cholestasis

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects

Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations

Successful mutation-specific chaperone therapy with 4-phenylbutyrate in a child with progressive familial intrahepatic cholestasis type 2

Simple and Fast Quantification of Nitisone (NTBC) using Liquid Chromatography-Tandem Mass Spectrometry Method in Plasma of Tyrosinemia Type 1 Patients

Biomarkers of oxidative stress: an analytical approach

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

Suchergebnisse filtern