Assessment of quality of life in Gaucher disease: A methodological approach

por Zizemer, Vitória S., Nalin, Tatiele, Schwartz, Ida Vanessa D., Vanz, Ana Paula
Publicado 2020

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

por Doneda, Divair, Netto, Cristina B, Moulin, Cileide C, Schwartz, Ida Vanessa D
Publicado 2013

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

por Ludwig, Nataniel Floriano, Sperb-Ludwig, Fernanda, Velho, Renata Voltolini, Schwartz, Ida Vanessa D.
Publicado 2017

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

por Schwartz, Ida Vanessa D., Göker-Alpan, Özlem, Kishnani, Priya S., Zimran, Ari, Renault, Lydie, Panahloo, Zoya, Deegan, Patrick
Publicado 2017

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity

por Artigalás, Osvaldo, Paskulin, Giorgio, Riegel, Mariluce, Burin, Maira, Saraiva-Pereira, Maria Luiza, Maluf, Sharbel, Kiss, Andrea, Schwartz, Ida Vanessa D.
Publicado 2012

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

por Koppe, Tiago, Doneda, Divair, Siebert, Marina, Paskulin, Livia, Camargo, Matheus, Tirelli, Kristiane Michelin, Vairo, Filippo, Daudt, Liane, Schwartz, Ida Vanessa D.
Publicado 2016

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

por Mazzola, Priscila Nicolao, Nalin, Tatiele, Castro, Kamila, van Rijn, Margreet, Derks, Terry G.J., Perry, Ingrid D.S., Mainieri, Alberto Scofano, Schwartz, Ida Vanessa D.
Publicado 2016

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

por Alegra, Taciane, Koppe, Tiago, Acosta, Angelina, Sarno, Manoel, Burin, Maira, Kessler, Rejane Gus, Sperb-Ludwig, Fernanda, Cury, Gabriela, Baldo, Guilherme, Matte, Ursula, Giugliani, Roberto, Schwartz, Ida Vanessa D.
Publicado 2014

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

por Zimran, Ari, Belmatoug, Nadia, Bembi, Bruno, Deegan, Patrick, Elstein, Deborah, Fernandez‐Sasso, Diego, Giraldo, Pilar, Goker‐Alpan, Ozlem, Lau, Heather, Lukina, Elena, Panahloo, Zoya, Schwartz, Ida Vanessa D.
Publicado 2017

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appro...

por Alemar, Bárbara, Gregório, Cleandra, Herzog, Josef, Matzenbacher Bittar, Camila, Brinckmann Oliveira Netto, Cristina, Artigalas, Osvaldo, Schwartz, Ida Vanessa D., Coffa, Jordy, Alves Camey, Suzi, Weitzel, Jeffrey, Ashton-Prolla, Patricia
Publicado 2018

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™

por Vanz, Ana Paula, van de Sande Lee, Juliana, Pinheiro, Bruna, Zambrano, Marina, Brizola, Evelise, da Rocha, Neusa Sicca, Schwartz, Ida Vanessa D., de Souza Pires, Maria Marlene, Félix, Têmis Maria
Publicado 2018

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

por Elstein, Deborah, Belmatoug, Nadia, Deegan, Patrick, Göker-Alpan, Özlem, Hughes, Derralynn A., Schwartz, Ida Vanessa D., Weinreb, Neal, Bonner, Nicola, Panter, Charlotte, Fountain, Donna, Lenny, Andrew, Longworth, Louise, Miller, Rachael, Shah, Koonal, Schenk, Jörn, Sen, Rohini, Zimran, Ari
Publicado 2022

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

por Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.
Publicado 2020

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

por Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D., Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B, Kaplan, Paige, Swiedler, Stuart J., Hardy, Karen, Berger, Kenneth I., Decker, Celeste
Publicado 2010

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

por Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Publicado 2018

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome...

por Kozycki, Christina Torres, Kodati, Shilpa, Huryn, Laryssa, Wang, Hongying, Warner, Blake M, Jani, Priyam, Hammoud, Dima, Abu-Asab, Mones S, Jittayasothorn, Yingyos, Mattapallil, Mary J, Tsai, Wanxia Li, Ullah, Ehsan, Zhou, Ping, Tian, Xiaoying, Soldatos, Ariane, Moutsopoulos, Niki, Kao-Hsieh, Marie, Heller, Theo, Cowen, Edward W, Lee, Chyi-Chia Richard, Toro, Camilo, Kalsi, Shelley, Khavandgar, Zohreh, Baer, Alan, Beach, Margaret, Long Priel, Debra, Nehrebecky, Michele, Rosenzweig, Sofia, Romeo, Tina, Deuitch, Natalie, Brenchley, Laurie, Pelayo, Eileen, Zein, Wadih, Sen, Nida, Yang, Alexander H, Farley, Gary, Sweetser, David A, Briere, Lauren, Yang, Janine, de Oliveira Poswar, Fabiano, Schwartz, Ida Vanessa D, Silva Alves, Tamires, Dusser, Perrine, Koné-Paut, Isabelle, Touitou, Isabelle, Titah, Salah Mohamed, van Hagen, Petrus Martin, van Wijck, Rogier T A, van der Spek, Peter J, Yano, Hiromi, Benneche, Andreas, Apalset, Ellen M, Jansson, Ragnhild Wivestad, Caspi, Rachel R, Kuhns, Douglas Byron, Gadina, Massimo, Takada, Hidetoshi, Ida, Hiroaki, Nishikomori, Ryuta, Verrecchia, Elena, Sangiorgi, Eugenio, Manna, Raffaele, Brooks, Brian P, Sobrin, Lucia, Hufnagel, Robert B, Beck, David, Shao, Feng, Ombrello, Amanda K, Aksentijevich, Ivona, Kastner, Daniel L
Publicado 2022