Published in Am J Surg Pathol on August 01, 2012
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High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab (2009) 1.26
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A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism. Anal Biochem (2002) 1.14
Geographic disparity: the dilemma of lower socioeconomic status, multiple listing, and death on the liver transplant waiting list. Clin Transplant (2014) 1.14
The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. Blood (2009) 1.13
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet (2006) 1.12
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Acute liver failure caused by 'fat burners' and dietary supplements: a case report and literature review. Can J Gastroenterol (2011) 1.08
The variable pathology of kidney disease after liver transplantation. Transplantation (2010) 1.08
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Predicting recurrence after liver transplantation in patients with hepatocellular carcinoma exceeding the up-to-seven criteria. Liver Transpl (2009) 1.02
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab (2008) 1.01
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Isolated intestinal transplantation: proof of clinical efficacy. Transplantation (2003) 1.00
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Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology (2005) 1.00
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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet (2002) 1.00
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. Mol Med (2010) 0.98
Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation (2011) 0.98
Referral and experience with genetic testing among women with early onset breast cancer. Genet Test (2005) 0.97
Randomized trial of emtricitabine/tenofovir disoproxil fumarate after hepatitis B immunoglobulin withdrawal after liver transplantation. Liver Transpl (2013) 0.96
Ocular manifestations of Niemann-Pick disease type B. Ophthalmology (2004) 0.96
Achalasia in a patient with gastroesophageal varices: problematic treatment decisions. Dig Dis Sci (2006) 0.96
A microbial association with autism. MBio (2012) 0.96
Complicated hernia presentation in patients with advanced cirrhosis and refractory ascites: management and outcome. Surgery (2010) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
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Clinical characterization of patients developing histologically-proven fibrosing cholestatic hepatitis C post-liver transplantation. Hepatol Res (2011) 0.94
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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One (2011) 0.92
Early and frequent histological recurrence of Crohn's disease in small intestinal allografts. Transplantation (2005) 0.91
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet (2008) 0.90
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. J Inherit Metab Dis (2012) 0.90
Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab (2007) 0.89
Underreporting of liver transplant waitlist removals due to death or clinical deterioration: results at four major centers. Transplantation (2013) 0.89
The incidence and significance of late acute cellular rejection (>1000 days) after liver transplantation. Clin Transplant (2004) 0.88
Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature. Semin Liver Dis (2005) 0.87
Hepatocellular carcinoma associated with an atypical presentation of Wilson's disease. Semin Liver Dis (2007) 0.87
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A (2007) 0.87
Homeostatic role of transforming growth factor-beta in the oral cavity and esophagus of mice and its expression by mast cells in these tissues. Am J Pathol (2009) 0.86
Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A (2007) 0.86
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol (2014) 0.86
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg (2012) 0.86
Attitudes of pediatric residents toward ethical issues associated with genetic testing in children. Pediatrics (2002) 0.85
Recombinant human luteinizing hormone, lutropin alfa, for the induction of follicular development and pregnancy in profoundly gonadotrophin-deficient women. Clin Endocrinol (Oxf) (2007) 0.85
Recurrent hepatic sarcoidosis post-liver transplantation manifesting with severe hypercalcemia: a case report and review of the literature. Liver Transpl (2005) 0.84
Conditional modeling of antibody titers using a zero-inflated poisson random effects model: application to Fabrazyme. J Pharmacokinet Pharmacodyn (2009) 0.84