Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Tatiele Nalin"'
Autor:
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Publikováno v:
Genes, Vol 14, Iss 12, p 2219 (2023)
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with
Externí odkaz:
https://doaj.org/article/377ea6c7f70646bfb2fcb08463331612
Autor:
Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is effective in achieving
Externí odkaz:
https://doaj.org/article/dca94da94d5f4fccb400079ba8306451
Autor:
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural his
Externí odkaz:
https://doaj.org/article/fe807eda91c44bb690419f9711fa3e6f
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
This letter discusses the use of Lansky Score as an instrument for assessing quality of life in Gaucher Disease.
Externí odkaz:
https://doaj.org/article/e1a5abe1b7964944aa1f9445e14a5814
Autor:
Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well‐recogn
Externí odkaz:
https://doaj.org/article/4e489ba45dbe4672ad5b584d02073b30
Autor:
Jésica Tamara Jacoby, Bruna Bento dos Santos, Tatiele Nalin, Karina Colonetti, Lília Farret Refosco, Carolina F. M. de Souza, Poli Mara Spritzer, Soraia Poloni, Roberta Hack-Mendes, Ida Vanessa Doederlein Schwartz
Publikováno v:
Nutrients, Vol 13, Iss 9, p 2987 (2021)
The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib
Externí odkaz:
https://doaj.org/article/9e6ffff74f2e44d2ab1f44577bc900c5
Autor:
Priscila Nicolao Mazzola, Tatiele Nalin, Kamila Castro, Margreet van Rijn, Terry G.J. Derks, Ingrid D.S. Perry, Alberto Scofano Mainieri, Ida Vanessa D. Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 16-20 (2016)
Background: Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional dis
Externí odkaz:
https://doaj.org/article/9e0f45a282b04820ab77cf1680bd15fd
Autor:
Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Publikováno v:
Jornal de Pediatria, Vol 90, Iss 6, Pp 572-579 (2014)
OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cros
Externí odkaz:
https://doaj.org/article/0cab01d7aded4c8a8cb45a187ad9dd78
Autor:
Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler‐Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz
Publikováno v:
Jornal de Pediatria (Versão em Português), Vol 90, Iss 6, Pp 572-579 (2014)
Objectives: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. Methods: This was a cros
Externí odkaz:
https://doaj.org/article/b45161b20f8e42539285f084202a9291