Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Ida Vanessa D, Schwartz"'
Autor:
Tássia Tonon, Chenia Martinez, Tatiele Nalin, Soraia Poloni, Otávio Bejzman Piltcher, François Maillot, Bianca Fasolo Franceschetto, Ida Vanessa D. Schwartz
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 426-432 (2024)
Abstract Patients with phenylketonuria (PKU) have a highly restrictive diet, which involves restriction of phenylalanine (Phe) intake and daily use of Phe‐free metabolic formula. However, little is known about the potential impact of this diet on c
Externí odkaz:
https://doaj.org/article/d8a6a36b9d5a46dfa3751910ddda52d4
Autor:
Brígida Dias Fernandes, Bárbara Corrêa Krug, Fernanda D’Athayde Rodrigues, Hérica Núbia Cardoso Cirilo, Stéfani Sousa Borges, Ida Vanessa D. Schwartz, Livia Fernandes Probst, Ivan Zimmermann
Publikováno v:
PLoS ONE, Vol 19, Iss 5 (2024)
Externí odkaz:
https://doaj.org/article/bd7dc7dad4b24480ab3e715e154f7326
Autor:
Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated conversations about trea
Externí odkaz:
https://doaj.org/article/8a9a96490a25457892be79016fa556e9
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:
Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Externí odkaz:
https://doaj.org/article/e2b36f5e15fe453fa8d63c1faf004242
Autor:
Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires, Têmis Maria Félix
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy and physical therapy,
Externí odkaz:
https://doaj.org/article/c94e23e8e0834cea9915c79424aa892c
Autor:
Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 1, Pp 30-34 (2016)
Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the
Externí odkaz:
https://doaj.org/article/cc9534f3b5cd4593a6414809a999554a
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:
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
Publikováno v:
PLoS ONE, Vol 13, Iss 5, p e0197529 (2018)
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
Externí odkaz:
https://doaj.org/article/0fc16c85890c46adaa059c560a8fccef
Autor:
Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler-Faccini, Carolina Fischinger Moura de Souza
Publikováno v:
Jornal de Pediatria, Vol 91, Iss 3, Pp 292-298 (2015)
OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis
Externí odkaz:
https://doaj.org/article/182279fe898340ecb5cbe3d47cc05324