Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Marina Siebert"'
Autor:
Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent complication of these disorders.This was a convenience cross-sectional study to evaluate hepcidin a
Externí odkaz:
https://doaj.org/article/ce099c1370144a2d9ceefed56e3ec05f
Autor:
Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, Renata Cravo, Erlane M. Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101006- (2023)
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients.
Externí odkaz:
https://doaj.org/article/d2a66241d68045b6bff785b464605667
Autor:
Leonardo Palma Kuhl, Paulo José Cauduro Marostica, Alexandre José Macedo, Gabriel Kuhl, Marina Siebert, Denise Manica, Leo Sekine, Cláudia Schweiger
Publikováno v:
Brazilian Journal of Otorhinolaryngology, Vol 89, Iss 2, Pp 254-263 (2023)
Objectives: To evaluate the bacterial microbiome found in tracheostomy cannulas of a group of children diagnosed with glossoptosis secondary to Robin Sequence (RS), and its clinical implications. Methods: Pediatric patients were enrolled in the study
Externí odkaz:
https://doaj.org/article/7656ff2943bd4e3aa9140e5acb4d3bab
Autor:
Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini
Publikováno v:
Anais Brasileiros de Dermatologia, Vol 96, Iss 2, Pp 155-162 (2021)
Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analys
Externí odkaz:
https://doaj.org/article/f6e7d443cd9e4fdcbb0a9e52ce6ce87e
Autor:
Andrese Aline Gasparin, Nicole Pamplona Bueno de Andrade, Vanessa Hax, Penélope Esther Palominos, Marina Siebert, Romulo Marx, Pedro Guilherme Schaefer, Francisco Veríssimo Veronese, Odirlei André Monticielo
Publikováno v:
BMC Rheumatology, Vol 4, Iss 1, Pp 1-10 (2020)
Abstract Introduction Vascular cell adhesion molecule-1 (VCAM-1) is involved in the progression of glomerular and tubulointerstitial injury in lupus nephritis (LN) and can be easily assessed in urine. The aim of this study was to assess urinary solub
Externí odkaz:
https://doaj.org/article/4e14df1ed6a94da0b404bf14d9987157
Autor:
Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manif
Externí odkaz:
https://doaj.org/article/8f5783abb437443786ed30ecf4860d10
Autor:
Laís Alves Jacinto-Scudeiro, Gustavo Dariva Machado, Annelise Ayres, Daniela Burguêz, Marcia Polese-Bonatto, Carelis González-Salazar, Marina Siebert, Marcondes Cavalcante França Junior, Maira Rozenfeld Olchik, Jonas Alex Morales Saute
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 77, Iss 12, Pp 843-847 (2020)
ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to signif
Externí odkaz:
https://doaj.org/article/e241ffc7ddaa49a2a346b33ea69c4e40
Autor:
Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto e Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Doederlein Schwartz, Carlos Thadeu Schmidt Cerski
Publikováno v:
Autopsy and Case Reports, Vol 11 (2021)
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a disturbance in the metabolism of glucocerebroside in the macrophages. Most of its manifestations – hepatosplenomegaly, anemia, thrombocytopenia, and bone pain – are ame
Externí odkaz:
https://doaj.org/article/3c0bc524781a4454aead3c5009ecff8d
Autor:
Tiago F. Andreis, Bruno S. Correa, Fernanda S. Vianna, Fernanda De-Paris, Marina Siebert, Sandra Leistner-Segal, Eriza C. Hahn, Jane M. Ulbrich, Luis F.R. Rivero, Francine H. De Oliveira, Vinícius Lorandi, Patricia Ashton-Prolla, Gabriel S. Macedo
Publikováno v:
Journal of Global Oncology, Vol 5, Pp 1-9 (2019)
PURPOSE: Adenocarcinoma is the most common histologic subtype of non–small-cell lung cancer, representing 40% of all diagnoses. Several biomarkers are currently used to determine patient eligibility for targeted treatments, including analysis of mo
Externí odkaz:
https://doaj.org/article/28864e23339447a2a1a5fea37f27b547
Autor:
Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The classic motor symp
Externí odkaz:
https://doaj.org/article/33d5755ce4cc442eb69138e4d7c50e24