Published in Arq Bras Endocrinol Metabol on February 01, 2011
New advances in the treatment of generalized lipodystrophy: role of metreleptin. Ther Clin Risk Manag (2015) 0.79
Simplified criteria for the diagnosis of autoimmune hepatitis. Hepatology (2008) 6.35
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
Schistosoma mansoni infection in the liver graft: The impact on donor and recipient outcomes after transplantation. Liver Transpl (2011) 2.13
Bariatric surgery in adolescents: preliminary 1-year results with a novel technique (Santoro III). Obes Surg (2008) 2.05
Absolute and relative adrenal insufficiency in children with septic shock. Crit Care Med (2005) 1.93
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) (2007) 1.67
Ascites and serum sodium are markers of increased waiting list mortality in children with chronic liver failure. Hepatology (2014) 1.60
Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arq Bras Endocrinol Metabol (2011) 1.56
A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr Suppl (2007) 1.49
Digestive Adaptation with Intestinal Reserve: a neuroendocrine-based operation for morbid obesity. Obes Surg (2006) 1.46
Modified pediatric end-stage liver disease scoring system and pediatric liver transplantation in Brazil. Liver Transpl (2010) 1.45
Diagnosis and management of biliary complications in pediatric living donor liver transplant recipients. Liver Transpl (2014) 1.43
[Search of prostatic tissue in 46,XX congenital adrenal hyperplasia]. Arq Bras Endocrinol Metabol (2009) 1.40
Biliary atresia: the Brazilian experience. J Pediatr (Rio J) (2010) 1.40
[Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity]. Arq Bras Endocrinol Metabol (2006) 1.40
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat (2004) 1.16
Guidelines for the management of mucopolysaccharidosis type I. J Pediatr (2009) 1.15
Th2 signals induce epithelial injury in mice and are compatible with the biliary atresia phenotype. J Clin Invest (2011) 1.13
Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young (2010) 1.10
Peginterferon alfa-2a plus ribavirin for chronic hepatitis C virus infection in children and adolescents. J Hepatol (2010) 1.10
Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet (2011) 1.08
Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol (2006) 1.07
Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A (2014) 1.03
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. Am J Med Genet A (2010) 1.02
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A (2011) 1.00
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet (2009) 0.98
Regional differences in clinical care among patients with type 1 diabetes in Brazil: Brazilian Type 1 Diabetes Study Group. Diabetol Metab Syndr (2012) 0.98
Autoimmune hepatitis, HLA and extended haplotypes. Autoimmun Rev (2010) 0.96
Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries. BMC Res Notes (2012) 0.96
Clinical distinctions and pathogenic implications of type 1 autoimmune hepatitis in Brazil and the United States. J Hepatol (2002) 0.95
A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity. Eur J Med Genet (2006) 0.94
Subcutaneous use of a fast-acting insulin analog: an alternative treatment for pediatric patients with diabetic ketoacidosis. Diabetes Care (2005) 0.93
Left lateral segmentectomy for pediatric live-donor liver transplantation: special attention to segment IV complications. Transplantation (2008) 0.93
Recommendations on diagnosis, treatment, and monitoring for Gaucher disease. J Pediatr (2009) 0.93
Hepatic failure and liver transplant: Working Group report of the second World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr (2004) 0.92
Is waist-to-height ratio a useful indicator of cardio-metabolic risk in 6-10-year-old children? BMC Pediatr (2013) 0.92
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol (2009) 0.91
Antismooth muscle and antiactin antibodies are indirect markers of histological and biochemical activity of autoimmune hepatitis. Hepatology (2013) 0.90
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet (2006) 0.90
Musculoskeletal pain in obese adolescents. J Pediatr (Rio J) (2011) 0.87
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab (2013) 0.87
Alternative management of diabetic ketoacidosis in a Brazilian pediatric emergency department. Diabetol Metab Syndr (2010) 0.87
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation. Am J Med Genet A (2004) 0.85
Premature thelarche: identification of clinical and laboratory data for the diagnosis of precocious puberty. Rev Hosp Clin Fac Med Sao Paulo (2002) 0.85
Relationships between intragastric food maldistribution, disturbances of antral contractility, and symptoms in functional dyspepsia. Dig Dis Sci (2006) 0.85
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet (2013) 0.85
Twenty Years of Experience in Pediatric Living Donor Liver Transplantation: Focus on Hepatic Artery Reconstruction, Complications, and Outcomes. Transplantation (2016) 0.84
Applicability of the IAIHG scoring system to the diagnosis of antimitochondrial/anti-M2 seropositive variant form of autoimmune hepatitis. J Gastroenterol Hepatol (2006) 0.84
Frequency of concurrent autoimmune disorders in patients with autoimmune hepatitis: effect of age, gender, and genetic background. J Clin Gastroenterol (2008) 0.84
Chronic myeloid leukemia in an XX male. Cancer Genet Cytogenet (2007) 0.83
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arq Bras Endocrinol Metabol (2008) 0.83
Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil. Am J Gastroenterol (2003) 0.83
[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)]. Arq Bras Endocrinol Metabol (2006) 0.82
[Brazilian Diabetes Society consensus statement--intensive insulin therapy and insulin pump therapy]. Arq Bras Endocrinol Metabol (2006) 0.82
Latin American consensus: children born small for gestational age. BMC Pediatr (2011) 0.82
Precocious puberty: an endocrine manifestation in congenital toxoplasmosis. J Pediatr Endocrinol Metab (2002) 0.82
Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet (2006) 0.82
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test (2006) 0.82
Dermal melanocytosis associated with GM1-gangliosidosis type 1. Acta Derm Venereol (2006) 0.82
Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype. Cytogenet Genome Res (2016) 0.82
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Clin Dysmorphol (2007) 0.81
Diabetes mellitus-related autoantibodies in childhood autoimmune hepatitis. J Pediatr Endocrinol Metab (2002) 0.81
Four hundred thirty consecutive pediatric living donor liver transplants: variables associated with posttransplant patient and graft survival. Liver Transpl (2012) 0.81
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. Am J Med Genet A (2004) 0.81
Hepatitis A as an etiologic agent of acute liver failure in Latin America. Pediatr Infect Dis J (2007) 0.81
A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Arq Bras Endocrinol Metabol (2012) 0.80
[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation]. Arq Bras Endocrinol Metabol (2005) 0.80
Hepatitis B virus infection in children, adolescents, and their relatives: genotype distribution and precore and core gene mutations. Rev Soc Bras Med Trop (2012) 0.80
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A (2012) 0.80
Analysis of factors associated with portal vein thrombosis in pediatric living donor liver transplant recipients. Liver Transpl (2014) 0.80
Bariatric surgery in pediatrics--is it time? J Pediatr Endocrinol Metab (2007) 0.80
Epidemiological and serological aspects of hepatitis A among children and teenagers in the city of Santos: a cross-sectional study. Sao Paulo Med J (2012) 0.79
Hematological findings in Noonan syndrome. Rev Hosp Clin Fac Med Sao Paulo (2003) 0.79
[XX male: 3 case reports during childhood]. Arq Bras Endocrinol Metabol (2006) 0.79
The Brazilian consensus on the management of Pompe disease. J Pediatr (2009) 0.79
Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation. J Pediatr Endocrinol Metab (2005) 0.79
Williams-Beuren syndrome: diagnosis by polymorphic markers. Genet Test Mol Biomarkers (2010) 0.79
Relationship between adherence to diet, glycemic control and cardiovascular risk factors in patients with type 1 diabetes: a nationwide survey in Brazil. Nutr J (2014) 0.79
Phenotypic variation of SF1 gene mutations. Adv Exp Med Biol (2011) 0.78
Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis. Arq Gastroenterol (2008) 0.78
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab (2004) 0.78
[Evaluation of the main late endocrine effects in children and adolescents after treatment of malignancies]. Arq Bras Endocrinol Metabol (2010) 0.78
Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders. Pediatr Blood Cancer (2008) 0.78
New metabolic and endocrine approaches in pediatrics. J Pediatr (Rio J) (2007) 0.78
Insulin pump therapy in type 1 diabetes mellitus. J Pediatr (Rio J) (2006) 0.78
Cytomegalovirus frequency in neonatal intrahepatic cholestasis determined by serology, histology, immunohistochemistry and PCR. World J Gastroenterol (2009) 0.78
Wilson's disease: an analysis of 28 Brazilian children. Clinics (Sao Paulo) (2012) 0.77
Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up. Horm Res Paediatr (2015) 0.77
Living donor liver transplantation for children in Brazil weighing less than 10 kilograms. Liver Transpl (2007) 0.77