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Gastroenterology, ISSN 0016-5085, 2013, Volume 144, Issue 1, pp. 112 - 121.e2
Background & Aims Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic... 
Gastroenterology and Hepatology | Noncirrhotic Portal Hypertension | Genetics | Hepatorenal Fibrocystic Disease | Ductal Plate Malformation | ENCODES | LIVER VOLUME | LENGTH | INTRAHEPATIC BILE-DUCTS | CHILDREN | PKHD1 | SPLEEN | NORMAL VALUES | INFANTS | OUTCOMES | GASTROENTEROLOGY & HEPATOLOGY | Liver Transplantation | Hypertension, Portal - physiopathology | Ultrasonography, Doppler, Color | Hypertension, Portal - complications | gamma-Glutamyltransferase - blood | Humans | Middle Aged | Prothrombin Time | Child, Preschool | Infant | Male | Esophageal and Gastric Varices - etiology | Liver Cirrhosis - congenital | Splenomegaly - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Liver Cirrhosis - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Adult | Female | Child | Liver Cirrhosis - genetics | Alkaline Phosphatase - blood | Severity of Illness Index | Endoscopy, Gastrointestinal | Organ Size | Kidney Transplantation | Serum Albumin | Platelet Count | Portal Pressure | Adolescent | Liver Cirrhosis - pathology | Cholangiopancreatography, Magnetic Resonance | Hypertension, Portal - blood | Mutation | Receptors, Cell Surface - genetics | Hypertension | Medical examination | Liver diseases | Genetic disorders | Aspartate | Thrombin | Diagnostic imaging | Fatty acids | Blood | Fibrosis | Medical genetics | Prothrombin | Polycystic kidney disease | Protein binding | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 2016, Volume 68, Issue 5, pp. 782 - 788
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 08/2014, Volume 59, Issue 2, pp. 190 - 196
OBJECTIVES:We correlated liver and kidney manifestations in a national cohort of patients with autosomal recessive polycystic kidney disease (ARPKD). METHODS:A... 
autosomal recessive polycystic kidney disease | liver disease | combined liver-kidney transplantation | congenital hepatic fibrosis | liver transplantation | ARPKD | SINGLE-CENTER | TRANSPLANTATION | CHILDREN | BILIARY DISEASE | NUTRITION & DIETETICS | CONGENITAL HEPATIC-FIBROSIS | PEDIATRICS | EXPERIENCE | GASTROENTEROLOGY & HEPATOLOGY | ASSOCIATION | PKHD1 MUTATIONS | Liver - pathology | Kidney - pathology | Liver Transplantation - adverse effects | Humans | Child, Preschool | Infant | Male | Esophageal and Gastric Varices - etiology | Esophageal and Gastric Varices - epidemiology | Renal Insufficiency - etiology | Young Adult | Hypertension, Portal - etiology | Polycystic Kidney, Autosomal Recessive - complications | Hypersplenism - epidemiology | Liver Diseases - etiology | Splenomegaly - etiology | Adult | Female | Liver - surgery | Child | Infant, Newborn | Kidney - surgery | Cholangitis - epidemiology | Renal Insufficiency - surgery | Survival Rate | Hepatoblastoma - mortality | Liver Diseases - epidemiology | Biliary Tract - pathology | Cholangitis - etiology | Hypertension, Portal - epidemiology | Hepatoblastoma - surgery | Splenomegaly - epidemiology | Adolescent | Hypersplenism - etiology | Biliary Tract Diseases - etiology | Polycystic Kidney, Autosomal Recessive - surgery | Liver Diseases - surgery | Biliary Tract Diseases - epidemiology | Kidney Transplantation - adverse effects | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2003, Volume 34, Issue 4, pp. 455 - 459
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2007, Volume 132, Issue 3, pp. 1104 - 1116
Background & Aims: In polycystic liver diseases (PCLDs), increased cholangiocyte proliferation and fluid secretion are key features and cholangiocyte adenosine... 
Gastroenterology and Hepatology | KIDNEY-DISEASE | MOLECULAR CHARACTERIZATION | CYST FORMATION | CYCLIC ADENOSINE | TYROSINE KINASE INHIBITION | SOMATOSTATIN RECEPTORS | CELL-PROLIFERATION | HAN-SPRD RATS | ORTHOLOGOUS MODEL | GASTROENTEROLOGY & HEPATOLOGY | BILIARY EPITHELIUM | Cysts - etiology | Bile Ducts - metabolism | Bile Duct Diseases - etiology | Liver Diseases - pathology | Dose-Response Relationship, Drug | Polycystic Kidney, Autosomal Recessive - pathology | Cysts - metabolism | Liver - drug effects | Time Factors | Bile Duct Diseases - metabolism | Polycystic Kidney, Autosomal Recessive - complications | Liver Diseases - etiology | Liver Cirrhosis - metabolism | Polycystic Kidney, Autosomal Recessive - drug therapy | Receptors, Somatostatin - metabolism | Cyclic AMP - metabolism | Organ Culture Techniques | Disease Models, Animal | Liver Cirrhosis - etiology | Cysts - prevention & control | Kidney - drug effects | Liver Cirrhosis - prevention & control | Bile Ducts - drug effects | Liver - metabolism | Liver Diseases - prevention & control | Rats | Octreotide - therapeutic use | Cysts - pathology | Octreotide - pharmacology | Rats, Sprague-Dawley | Disease Progression | Gastrointestinal Agents - pharmacology | Animals | Bile Duct Diseases - prevention & control | Gastrointestinal Agents - therapeutic use | Receptors, Somatostatin - drug effects | Cell Proliferation - drug effects | Liver Diseases - metabolism | Polycystic Kidney, Autosomal Recessive - metabolism | Bile Duct Diseases - pathology | Adenosine | Analysis | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 07/2017, Volume 32, Issue 7, pp. 1269 - 1273
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2010, Volume 99, Issue 2, pp. 160 - 173
Journal Article