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Top papers

Rank Title Journal Year PubWeight™‹?›
1 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998 3.33
2 Prevalence of liver disease in cystic fibrosis. Arch Dis Child 1991 1.61
3 Increased hepatic copper concentration in Indian childhood cirrhosis. Lancet 1979 1.54
4 Orcein-positive liver deposits in Indian childhood cirrhosis. Lancet 1978 1.47
5 Development of a PCR probe test for identifying Pseudomonas aeruginosa and Pseudomonas (Burkholderia) cepacia. J Clin Pathol 1994 1.33
6 3-Oxo-delta 4 bile acids in liver disease. Lancet 1988 1.24
7 Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy. Arch Dis Child 1976 1.19
8 Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet 1994 1.17
9 Enterocytic CYP3A4 in a paediatric population: developmental changes and the effect of coeliac disease and cystic fibrosis. Br J Clin Pharmacol 2001 1.15
10 Current clinical management of hepatic problems in cystic fibrosis. J R Soc Med 1986 1.14
11 Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am J Hum Genet 1997 1.08
12 Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 2001 1.05
13 Liver disease in India. Arch Dis Child 1982 1.03
14 Copper associated childhood cirrhosis. Gut 1994 1.02
15 Premature eruption and macrodontia associated with insulin resistant diabetes and pineal hyperplasia. Report of two cases. Br Dent J 1976 1.02
16 Medical students' compliance with simple administrative tasks and success in final examinations: retrospective cohort study. BMJ 2002 0.99
17 Indian childhood cirrhosis presenting in Britain with orcein-positive deposits in liver and kidney. Br Med J 1978 0.94
18 Copper toxicity affects proliferation and viability of human hepatoma cells (HepG2 line). Hum Exp Toxicol 2000 0.90
19 Children with croup presenting with scalds. BMJ 1990 0.90
20 Contribution of midazolam and its 1-hydroxy metabolite to preoperative sedation in children: a pharmacokinetic-pharmacodynamic analysis. Br J Anaesth 2002 0.90
21 The major histocompatibility complex influences the development of chronic liver disease in male children and young adults with cystic fibrosis. J Hepatol 1995 0.90
22 The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease. J Inherit Metab Dis 1999 0.90
23 High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis 2007 0.89
24 Locus heterogeneity in progressive familial intrahepatic cholestasis. J Med Genet 1996 0.89
25 Indian childhood cirrhosis. Arch Dis Child 1981 0.87
26 Heterozygous alpha 1-antitrypsin deficiency and valproate hepatotoxicity. Lancet 1984 0.86
27 Early introduction of copper-contaminated animal milk feeds as a possible cause of Indian childhood cirrhosis. Lancet 1983 0.86
28 Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease. Hepatology 1992 0.85
29 Optic nerve hypoplasia in infancy. J R Soc Med 1986 0.85
30 Cellobiose: mannitol differential permeability in small bowel disease. Arch Dis Child 1989 0.84
31 Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis. Biochem Mol Med 1995 0.82
32 Comparison of feeding history of children with Indian childhood cirrhosis and paired controls. J Pediatr Gastroenterol Nutr 1988 0.82
33 Copper distribution among serum proteins in paediatric liver disorders and malignancies. Eur J Clin Invest 1988 0.82
34 Wilson's disease, chronic copper poisoning, or Indian childhood cirrhosis? Arch Dis Child 1980 0.82
35 Autoimmune chronic active hepatitis in a family. Gut 1991 0.82
36 Alpha-1 antitrypsin deficiency. Arch Dis Child 2001 0.81
37 Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia. Ann Clin Biochem 1999 0.81
38 Copper and Indian childhood cirrhosis. Indian J Pediatr 1981 0.80
39 Copper-associated liver disease in North Ronaldsay sheep: a possible animal model for non-Wilsonian hepatic copper toxicosis of infancy and childhood. J Pathol 2001 0.80
40 Penicillamine in Indian childhood cirrhosis. Lancet 1987 0.80
41 Reversal of Indian childhood cirrhosis by D-penicillamine therapy. J Pediatr Gastroenterol Nutr 1995 0.80
42 Liver and biliary problems in cystic fibrosis. Br Med Bull 1992 0.80
43 Hypoplastic optic nerves and pituitary dysfunction. Arch Dis Child 1984 0.79
44 The prevention of Indian childhood cirrhosis. Ann Trop Paediatr 1992 0.79
45 Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) J Med Genet 2000 0.79
46 Hepatic collagen synthesis in a rat model of cirrhosis, and its modification by colchicine. J Pathol 1981 0.79
47 Severe pancreatitis and fatty liver progressing to cirrhosis associated with Coxsackie B4 infection in a three year old with alpha-1-antitrypsin deficiency. Acta Paediatr Scand 1986 0.78
48 Copper-induced hepatotoxicosis with hepatic stellate cell activation and severe fibrosis in North Ronaldsay lambs: a model for non-Wilsonian hepatic copper toxicosis of infants. J Comp Pathol 2004 0.78
49 Gut permeability in IgA nephropathy. Nephrol Dial Transplant 1990 0.78
50 A comparison of the ontogeny of enterocytic and hepatic cytochromes P450 3A in the rat. Biochem Pharmacol 2000 0.77
51 Neonatal liver transplantation for fulminant hepatitis caused by herpes simplex virus type 2. J Pediatr Gastroenterol Nutr 2002 0.77
52 Serum type III procollagen and basement membrane proteins as noninvasive markers of hepatic pathology in Indian childhood cirrhosis. Hepatology 1988 0.77
53 Eosinophilic gastroenteritis. Arch Dis Child 1985 0.77
54 The effect of carbon tetrachloride on the copper-laden rat liver. Br J Exp Pathol 1989 0.77
55 Carnitine-acylcarnitine translocase deficiency--a mild phenotype. J Inherit Metab Dis 1997 0.77
56 Assessment of stool colour in community management of prolonged jaundice in infancy. Acta Paediatr 1999 0.76
57 Long term survival in Indian childhood cirrhosis treated with D-penicillamine. Arch Dis Child 1996 0.76
58 Developmental changes in the expression of enterocytic and hepatic cytochromes P4501A in rat. Xenobiotica 2002 0.76
59 Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. J Inherit Metab Dis 1989 0.75
60 Severe failure to thrive and diarrhoea caused by laxative abuse. Arch Dis Child 1988 0.75
61 Pneumococcal infection in the newborn. Arch Dis Child 1993 0.75
62 Gene polymorphisms and the use of the bonferroni correction factor: when and when not to apply? Arch Dis Child 1997 0.75
63 Genetic hemochromatosis in alpha1-antitrypsin-deficient liver disease. Hepatology 1997 0.75
64 Copper in urine and hair in Indian childhood cirrhosis. Arch Dis Child 1988 0.75
65 A case of hepatocellular carcinoma complicating hepatitis B infection in a nine-year-old boy. Q J Med 1985 0.75
66 An animal model for copper-associated cirrhosis in infancy. J Pathol 1998 0.75
67 Expression of the caeruloplasmin gene in the adult and neonatal rat liver. Clin Sci (Lond) 1989 0.75
68 Alpha-tocopherol deficiency fails to aggravate toxic liver injury but liver injury causes alpha-tocopherol retention. J Hepatol 1992 0.75
69 Indian childhood cirrhosis: copper ingestion, penicillamine treatment and prevention. Indian J Pediatr 1987 0.75
70 Three-base pair resolution of DNA fragments on agarose: application to delta F508 analysis in cystic fibrosis. Biotechniques 1993 0.75
71 Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II. J Inherit Metab Dis 1999 0.75
72 A model of jejunal injury and recovery in the rat. Scand J Gastroenterol Suppl 1982 0.75
73 Incidence and clinical features of Indian childhood cirrhosis. Indian Pediatr 1983 0.75
74 Pulmonary haemorrhage as a complication of neonatal anaesthesia. Anaesthesia 1988 0.75
75 Lafora disease: a progressive myoclonus epilepsy. J Paediatr Child Health 1992 0.75
76 Successful treatment of refractory ascites in a child with transjugular intrahepatic portosystemic shunt. Acta Paediatr 2001 0.75
77 Improved high-performance liquid chromatographic technique for the determination of hepatic alpha-tocopherol. J Chromatogr 1989 0.75
78 Macroamylasaemia and hepatitis in a twelve-year-old boy. Lancet 1980 0.75
79 Copper protects against galactosamine-induced hepatitis. J Hepatol 1987 0.75
80 Hepatic peptidyl prolyl hydroxylase activity and liver fibrosis--a prospective study of 94 infants and children with hepatobiliary disorders. Hepatology 1984 0.75
81 Nephrotic syndrome in two members of a family with mercury poisoning. J Trace Elem Electrolytes Health Dis 1990 0.75
82 Neonatal haemochromatosis associated with gastroschisis. Pediatr Surg Int 2008 0.75
83 Use of basiliximab in pediatric liver transplantation for Langerhans cell histiocytosis. Pediatr Transplant 2003 0.75
84 Hepatic copper in siblings of children with ICC. Indian Pediatr 1984 0.75
85 Vitamin E deficiency and copper hepatotoxicity. J Pediatr Gastroenterol Nutr 1989 0.75
86 Chronic idiopathic intestinal obstruction. J Pediatr 1978 0.75
87 Uptake of copper from brass vessels by bovine milk and its relevance to Indian childhood cirrhosis. J Pediatr Gastroenterol Nutr 1989 0.75