Search Results - "Adriana Maria Alves De Tommaso"
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ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
Published in Revista Paulista de Pediatria (01-01-2021)“…ABSTRACT Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is…”
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Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
Published in Genetics and molecular biology (01-01-2013)“…Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or…”
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LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE
Published in Arquivos de gastroenterologia (01-01-2021)“…Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known…”
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PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1
Published in Revista Paulista de Pediatria (01-01-2019)“…To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b. Description of three clinical cases…”
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Biliary atresia: the Brazilian experience
Published in Jornal de pediatria (01-11-2010)“…To evaluate epidemiological, clinical and prognostic characteristics of children with biliary atresia. Data regarding portoenterostomy, liver transplantation…”
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IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO
Published in Revista Paulista de Pediatria (01-03-2018)“…RESUMO Objetivo: Descrever a doença de depósito de ésteres de colesterol (DDEC) e a importância da biópsia hepática na realização do diagnóstico. Descrição do…”
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Clinical and biochemical features of autoimmune hepatitis in 36 pediatric patients
Published in Arquivos de gastroenterologia (01-03-2006)“…Few studies on autoimmune hepatitis have enrolled non-Caucasian groups. To evaluate Brazilian children with type 1 and 2 autoimmune hepatitis regarding outcome…”
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SYMPTOMATIC CHOLELITHIASIS AS THE PRESENTATION OF PEDIATRIC PRIMARY SCLEROSING CHOLANGITIS - CASE SERIES AND LITERATURE REVIEW
Published in Arquivos de gastroenterologia (01-06-2021)“…ABSTRACT BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is…”
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Antibody titers and response to vaccination against hepatitis A and B in pediatric patients with portal hypertension
Published in Acta gastroenterologica latinoamericana (01-09-2008)“…In Brazil, approximately 130 new cases of hepatitis A per 100,000 inhabitants occur annually and 15% of the population has been in contact with hepatitis B…”
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Caroli's disease: 6 case studies
Published in Acta gastroenterologica latinoamericana (2003)“…Caroll's disease is characterized by congenital non-obstructive dilatation of the intrahepatic bile ducts of undefined etiology. It is a rare disease usually…”
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Atresia biliar: a experiência Brasileira
Published in Jornal de pediatria (01-12-2010)“…OBJETIVO: Avaliar as características epidemiológicas, clínicas e prognósticas de crianças com atresia biliar. MÉTODOS: Dados sobre portoenterostomia,…”
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Atresia de vias biliares em paciente com síndrome do olho do gato - relato de caso
Published in Residência Pediátrica (01-12-2023)“…Biliary atresia is a rare condition, of undefined etiology and with a potentially fatal evolution. The cat eye syndrome is a rare chromosomal disease that is…”
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Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease
Published in Arquivos de gastroenterologia (01-01-2001)“…Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the…”
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Biliary atresia: the Brazilian experience
Published in Revista Chilena de pediatría (01-10-2012)Get full text
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IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
Published in Revista paulista de pediatria (01-01-2018)“…To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. A female patient, aged two years and…”
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IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO
Published in Revista paulista de pediatria (30-10-2017)“…RESUMO Objetivo: Descrever a doença de depósito de ésteres de colesterol (DDEC) e a importância da biópsia hepática na realização do diagnóstico. Descrição do…”
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Partial internal biliary diversion through a cholecystojejunocolonic anastomosis—a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report
Published in Journal of pediatric surgery (01-08-2007)“…Abstract Background/Purpose The purpose of the study was to describe the initial experience with a novel approach to the surgical treatment of progressive…”
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SYMPTOMATIC CHOLELITHIASIS AS THE PRESENTATION OF PEDIATRIC PRIMARY SCLEROSING CHOLANGITIS - CASE SERIES AND LITERATURE REVIEW
Published in Arquivos de gastroenterologia (2021)“…ABSTRACT BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is…”
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Paucity of intrahepatic bile ducts in infancy--experience of a tertiary center
Published in Arquivos de gastroenterologia (01-09-2004)“…Intrahepatic cholestasis secondary to paucity of bile duct is an alteration of the anatomic integrity of the biliary tract. Can be defined only histologically…”
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Paucity of intrahepatic bile ducts in infancy: experience of a tertiary center Hipoplasia de vias biliares intra-hepáticas na infância: experiência de um serviço terciário
Published in Arquivos de gastroenterologia (01-09-2004)“…BACKGROUND: Intrahepatic cholestasis secondary to paucity of bile duct is an alteration of the anatomic integrity of the biliary tract. Can be defined only…”
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