[HTML][HTML] Liver disease associated with canalicular transport defects: current and future therapies
JM Stapelbroek, KJ van Erpecum, LWJ Klomp… - Journal of …, 2010 - Elsevier
Bile formation at the canalicular membrane is a delicate process. This is illustrated by inherited
liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all …
liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all …
[HTML][HTML] Intestinal obstruction syndromes in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and constipation
HPJ Van der Doef, FTM Kokke, CK van der Ent… - Current …, 2011 - Springer
Meconium ileus at birth, distal intestinal obstruction syndrome (DIOS), and constipation are
an interrelated group of intestinal obstruction syndromes with a variable severity of …
an interrelated group of intestinal obstruction syndromes with a variable severity of …
Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease
M Wiggelinkhuizen, MEC Tilanus… - Alimentary …, 2009 - Wiley Online Library
Background No consensus is available on the optimal initial treatment in Wilson disease. Aim
To assess systematically the available literature of treatment in newly presenting patients …
To assess systematically the available literature of treatment in newly presenting patients …
Multiple common variants for celiac disease influencing immune gene expression
We performed a second-generation genome-wide association study of 4,533 individuals with
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
LN Bull, MJT van Eijk, L Pawlikowska, JA DeYoung… - Nature …, 1998 - nature.com
Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver
disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic …
disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic …
Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis
JF Dekkers, G Berkers, E Kruisselbrink… - Science translational …, 2016 - science.org
Identifying subjects with cystic fibrosis (CF) who may benefit from cystic fibrosis transmembrane
conductance regulator (CFTR)–modulating drugs is time-consuming, costly, and …
conductance regulator (CFTR)–modulating drugs is time-consuming, costly, and …
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
SWC van Mil, WL van der Woerd, G van der Brugge… - Gastroenterology, 2004 - Elsevier
Background & Aims : Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent
intrahepatic cholestasis (BRIC) are hereditary liver disorders; PFIC is characterized by …
intrahepatic cholestasis (BRIC) are hereditary liver disorders; PFIC is characterized by …
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …
Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis
RHJ Houwen, S Baharloo, K Blankenship… - Nature …, 1994 - nature.com
It is now feasible to map disease genes by screening the genome for linkage disequilibrium
between the disease and marker alleles. This report presents the first application of this …
between the disease and marker alleles. This report presents the first application of this …
[PDF][PDF] Characterization of mutations in ATP8B1 associated with hereditary cholestasis
LWJ Klomp, JC Vargas, SWC van Mil… - …, 2004 - Wiley Online Library
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic
cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic …
cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic …