Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Autor: Tresbach RH; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Sperb-Ludwig F; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: fsperb@hcpa.edu.br., Ligabue-Braun R; Graduate Program in Biological Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Pharmacosciences, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil., Bitencourt FH; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Tonon T; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Souza CFM; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Poswar FO; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Leite MEQ; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Amorim T; Newborn Screening Reference Center - Association of Parents and Friends of People with Disabilities (APAE), Salvador, BA, Brazil., Porta G; Pedro de Alcântara Children's Institute - Hospital das Clínicas, Medical School, Universidade de São Paulo (USP), São Paulo, SP, Brazil., Seda Neto J; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Miura IK; Department of Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, SP, Brazil., Steiner CE; Department of Translational Medicine, School of Medical Sciences, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil., Martins AM; Reference Center for Inborn Errors of Metabolism, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Department of Pediatrics, Universidade Estadual do Ceará (UECE), Fortaleza, CE, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., Schwartz IVD; BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil; InRaras, National Institute of Rare Diseases, Brazil.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108569. Date of Electronic Publication: 2024 Aug 29.

Degos disease – malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease

Autor: Pirolla E, Fregni F, Miura IK, Misiara AC, Almeida F, Zanoni E

Publikováno v: Clinical and Experimental Gastroenterology, Vol 2015, Iss default, Pp 141-147 (2015)

Eduardo Pirolla,1 Felipe Fregni,1 Irene K Miura,2 Antonio Carlos Misiara,3 Fernando Almeida,3 Esdras Zanoni3 1Spaulding Rehabilitation Network Research Laboratory, Harvard Medical School, Boston, MA, USA; 2University of São Paulo, Sirio Libanes Hosp

Externí odkaz: https://doaj.org/article/b2020866269948ad91b68f4934d1826a

In vitro fertilization: an unexpected finding in a cohort of patients with biliary atresia.

Autor: Costa CM; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Porta A; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Miura IK; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Porta G; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Fonseca EA; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Pugliese R; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Kondo M; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Chapchap P; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil., Sindhi R; Hillman Center for Pediatric Transplantation, Thomas E. Starzl Transplantation Institute, Department of Transplant Surgery, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Feier FH; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil., Seda Neto J; Hepatologia e Transplante Hepático, Hospital Sírio-Libanês, São Paulo, SP, Brasil.; Hepatologia e Transplante Hepático, A.C. Camargo Cancer Center, São Paulo, SP, Brasil.

Publikováno v: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas [Braz J Med Biol Res] 2023 Mar 24; Vol. 56, pp. e12671. Date of Electronic Publication: 2023 Mar 24 (Print Publication: 2023).

Impact of hypoxemia on pediatric liver transplantation for hepatopulmonary syndrome.

Autor: Turine Neto P; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Seda Neto J; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., da Fonseca EA; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Porta G; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Pugliese R; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Benavides MAR; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Vincenzi R; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Roda KMO; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Danesi VLB; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Hirschfeld APM; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Feier FH; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Chapchap P; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil., Miura IK; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, São Paulo, Brazil.; Hepatology and Liver Transplantation A. C. Camargo Cancer Center, São Paulo, Brazil.; Hospital Municipal Infantil Menino Jesus, São Paulo, Brazil.

Publikováno v: Pediatric transplantation [Pediatr Transplant] 2021 Aug; Vol. 25 (5), pp. e13968. Date of Electronic Publication: 2021 Feb 16.

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Autor: Lakkhana, Panisara¹ (AUTHOR), Tim-Aroon, Thipwimol² (AUTHOR) thipwimol.tim@mahidol.ac.th, Khongkraparn, Arthaporn² (AUTHOR), Noojarern, Saisuda² (AUTHOR), Wongkittichote, Parith³ (AUTHOR), Wichajarn, Khunton⁴ (AUTHOR), Kuptanon, Chulaluck⁵ (AUTHOR), Boonyawat, Boonchai⁶ (AUTHOR), Suphapeetiporn, Kanya⁷ (AUTHOR), Wejaphikul, Karn⁸ (AUTHOR), Seo, GoHun⁹ (AUTHOR), Wattanasirichaigoon, Duangrurdee² (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 10/25/2024, Vol. 19 Issue 1, p1-9. 9p.