The trouble with biopsies...

Type 2 diabetes in children is frequently associated with elevated alanine aminotransferase. J Pediatr Gastroenterol Nutr (2005) 1.94

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med (2009) 7.53

An efficient one-step site-directed and site-saturation mutagenesis protocol. Nucleic Acids Res (2004) 6.42

The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood (2007) 4.14

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology (2012) 3.28

Biliary atresia. Lancet (2009) 3.28

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06

ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J Immunol (2006) 2.99

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) (2010) 2.33

Crystal structure of the yeast eIF4A-eIF4G complex: an RNA-helicase controlled by protein-protein interactions. Proc Natl Acad Sci U S A (2008) 2.24

C5a anaphylatoxin is a major regulator of activating versus inhibitory FcgammaRs in immune complex-induced lung disease. J Clin Invest (2002) 2.11

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00

Diagnosis of nonalcoholic fatty liver disease in children and adolescents: position paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr (2012) 1.91

The molecular architecture of the metalloprotease FtsH. Proc Natl Acad Sci U S A (2006) 1.74

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet (2009) 1.68

Relationship between p53 codon 72 polymorphism and susceptibility to sunburn and skin cancer. J Invest Dermatol (2002) 1.66

The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. J Mol Biol (2003) 1.54

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood (2005) 1.52

Endocrine and bone metabolic complications in chronic liver disease and after liver transplantation in children. J Pediatr Gastroenterol Nutr (2012) 1.49

Age-dependent TLR3 expression of the intestinal epithelium contributes to rotavirus susceptibility. PLoS Pathog (2012) 1.48

Role of inducible nitric oxide synthase and NADPH oxidase in early control of Burkholderia pseudomallei infection in mice. Infect Immun (2006) 1.45

Difficult management choices for infants with short bowel syndrome and liver failure. J Pediatr Gastroenterol Nutr (2002) 1.40

Interferon alfa-2b in combination with ribavirin for the treatment of chronic hepatitis C in children: efficacy, safety, and pharmacokinetics. Hepatology (2005) 1.40

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol (2010) 1.36

Production of a functional catalytic antibody ScFv-NusA fusion protein in bacterial cytoplasm. J Biochem (2003) 1.29

Expression improvement and mechanistic study of the retro-Diels-Alderase catalytic antibody 10F11 by site-directed mutagenesis. J Mol Biol (2004) 1.26

Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26

Molecular mechanism of enantioselective proton transfer to carbon in catalytic antibody 14D9. Proc Natl Acad Sci U S A (2004) 1.25

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology (2010) 1.20

Crystal structure of a dodecameric tetrahedral-shaped aminopeptidase. J Biol Chem (2004) 1.16

Structure and function of the bacterial AAA protease FtsH. Biochim Biophys Acta (2011) 1.15

The crystal structure of the carboxy-terminal domain of human translation initiation factor eIF5. J Mol Biol (2006) 1.12

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Hum Mol Genet (2005) 1.10

Transitioning care of the pediatric recipient to adult caregivers. Pediatr Clin North Am (2003) 1.10

Progressive histological damage in liver allografts following pediatric liver transplantation. Hepatology (2006) 1.07

Biliary atresia in England and Wales: results of centralization and new benchmark. J Pediatr Surg (2011) 1.06

A mechanism of covalent substrate binding in the x-ray structure of subunit K of the Escherichia coli dihydroxyacetone kinase. Proc Natl Acad Sci U S A (2003) 1.04

Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A (2012) 1.04

Crystal structure of the phosphoenolpyruvate-binding enzyme I-domain from the Thermoanaerobacter tengcongensis PEP: sugar phosphotransferase system (PTS). J Mol Biol (2004) 1.03

Crystal structure of the human supernatant protein factor. Structure (2002) 1.03

Crystal structure of the Citrobacter freundii dihydroxyacetone kinase reveals an eight-stranded alpha-helical barrel ATP-binding domain. J Biol Chem (2003) 1.03

Mucosal immunity and nasal influenza vaccination. Expert Rev Vaccines (2012) 1.03

Long-term persistence of immunity to hepatitis B after vaccination during infancy in a country where endemicity is low. J Infect Dis (2004) 1.02

Human liver-derived stem cells. Semin Liver Dis (2003) 0.99

Long-term lamivudine therapy for children with HBeAg-positive chronic hepatitis B. Hepatology (2006) 0.99

Application and limitations of transient liver elastography in children. J Pediatr Gastroenterol Nutr (2013) 0.99

Influence of ABCB1 polymorphisms and haplotypes on tacrolimus nephrotoxicity and dosage requirements in children with liver transplant. Br J Clin Pharmacol (2009) 0.98

Progenitor cells of the biliary epithelial cell lineage. Semin Cell Dev Biol (2002) 0.98

Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat (2010) 0.98

Crystal structure of enzyme I of the phosphoenolpyruvate sugar phosphotransferase system in the dephosphorylated state. J Biol Chem (2009) 0.98

Regulation of the Dha operon of Lactococcus lactis: a deviation from the rule followed by the Tetr family of transcription regulators. J Biol Chem (2006) 0.97

Removal of metabolites, cytokines and hepatic growth factors by extracorporeal liver support in children. J Pediatr Gastroenterol Nutr (2005) 0.97

Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate isomerase related to regulatory eIF2B subunits. J Biol Chem (2004) 0.97

Kinetics of IgM and IgA antibody response to 23-valent pneumococcal polysaccharide vaccination in healthy subjects. J Clin Immunol (2012) 0.96

Central venous pressure and impaired renal function in patients with acute heart failure. Eur J Heart Fail (2010) 0.96

The role of Notch receptor expression in bile duct development and disease. J Pathol (2004) 0.94

A calcium-gated lid and a large beta-roll sandwich are revealed by the crystal structure of extracellular lipase from Serratia marcescens. J Biol Chem (2007) 0.93

Histiocytic sarcoma with interdigitating dendritic cell differentiation. J Pediatr Hematol Oncol (2004) 0.93

Supernatant protein factor in complex with RRR-alpha-tocopherylquinone: a link between oxidized Vitamin E and cholesterol biosynthesis. J Mol Biol (2003) 0.92

X-ray structures of the three Lactococcus lactis dihydroxyacetone kinase subunits and of a transient intersubunit complex. J Biol Chem (2008) 0.92

Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr (2017) 0.91

Mucosal vaccination with a recombinant OprF-I vaccine of Pseudomonas aeruginosa in healthy volunteers: comparison of a systemic vs. a mucosal booster schedule. FEMS Immunol Med Microbiol (2003) 0.90

Characteristics of early and late PTLD development in pediatric solid organ transplant recipients. Transplantation (2013) 0.89

Molecular analysis of ulilysin, the structural prototype of a new family of metzincin metalloproteases. J Biol Chem (2006) 0.89

Indications and limitations of bariatric intervention in severely obese children and adolescents with and without nonalcoholic steatohepatitis: ESPGHAN Hepatology Committee Position Statement. J Pediatr Gastroenterol Nutr (2015) 0.89

Oxidative changes of bronchoalveolar proteins in cystic fibrosis. Chest (2006) 0.89

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat (2009) 0.89

Phosphoenolpyruvate: sugar phosphotransferase system from the hyperthermophilic Thermoanaerobacter tengcongensis. Biochemistry (2011) 0.88

Fatal and life threatening rupture of splenic artery aneurysms in children with portal hypertension. Pediatr Transplant (2004) 0.87

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis (2011) 0.87

Management strategies for hepatitis C virus infection in children. Paediatr Drugs (2008) 0.87

Mycophenolate mofetil for renal dysfunction after pediatric liver transplantation. Transplantation (2005) 0.87

ABO-incompatible pediatric liver transplantation in very small recipients: Birmingham's experience. Pediatr Transplant (2011) 0.87

Phosphoenolpyruvate- and ATP-dependent dihydroxyacetone kinases: covalent substrate-binding and kinetic mechanism. Biochemistry (2004) 0.86

On the relevance of the Met-turn methionine in metzincins. J Biol Chem (2010) 0.86

Primary hepatic sarcomas in children--a single-center experience over 19 years. J Pediatr Surg (2010) 0.85

Intravenous immunoglobulin (IVIG)-mediated neutralisation of C5a: a direct mechanism of IVIG in the maintenance of a high Fc gammaRIIB to Fc gammaRIII expression ratio on macrophages. Br J Haematol (2006) 0.85

Autophagy-enhancing drug carbamazepine diminishes hepatocellular death in fibrinogen storage disease. J Hepatol (2013) 0.85

Immune responses in the airways by nasal vaccination with systemic boosting against Pseudomonas aeruginosa in chronic lung disease. Vaccine (2009) 0.85

Systemic, nasal and oral live vaccines against Pseudomonas aeruginosa: a clinical trial of immunogenicity in lower airways of human volunteers. Vaccine (2009) 0.85

Substrate specificity of a metalloprotease of the pappalysin family revealed by an inhibitor and a product complex. Arch Biochem Biophys (2006) 0.84

Primary prophylaxis of variceal hemorrhage in children with portal hypertension: a framework for future research. J Pediatr Gastroenterol Nutr (2011) 0.84

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother (2008) 0.84

British paediatric surveillance unit study of biliary atresia: outcome at 13 years. J Pediatr Gastroenterol Nutr (2009) 0.84

Non-alcoholic fatty liver disease in children. BMJ (2011) 0.84

Whole-body diffusion-weighted MRI in a case of Rosai-Dorfman disease with exclusive multifocal skeletal involvement. Skeletal Radiol (2011) 0.84

Crystal structure of archaemetzincin AmzA from Methanopyrus kandleri at 1.5 A resolution. Proteins (2010) 0.83

Liver transplant in cystic fibrosis: a poll among European centers. A study from the European Liver Transplant Registry. Transpl Int (2006) 0.83

Oral Tocofersolan Corrects or Prevents Vitamin E Deficiency in Children With Chronic Cholestasis. J Pediatr Gastroenterol Nutr (2016) 0.83

Crystal structure of the nucleotide-binding subunit DhaL of the Escherichia coli dihydroxyacetone kinase. J Mol Biol (2006) 0.83

The effect of long-term calcineurin inhibitor therapy on renal function in children after liver transplantation. Pediatr Transplant (2004) 0.83

Targeting of platelet integrin alphaIIbbeta3 determines systemic reaction and bleeding in murine thrombocytopenia regulated by activating and inhibitory FcgammaR. Int Immunol (2003) 0.83