Analysis of body composition and nutritional status in Brazilian phenylketonuria patients by 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.

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

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Maple syrup urine disease in Brazil: a panorama of the last two decades by Herber, Silvani, Schwartz, Ida Vanessa D., Nalin, Tatiéle, Oliveira Netto, Cristina Brinkmann, Camelo Junior, José Simon, Santos, Mara Lúcia, Ribeiro, Erlane Marques, Schüler-Faccini, Lavinia, de Souza, Carolina Fischinger Moura

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Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing by Ludwig, Nataniel Floriano, Sperb-Ludwig, Fernanda, Velho, Renata Voltolini, Schwartz, Ida Vanessa D.

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Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey by Lau, Heather, Belmatoug, Nadia, Deegan, Patrick, Goker-Alpan, Ozlem, Schwartz, Ida Vanessa D., Shankar, Suma P, Panahloo, Zoya, Zimran, Ari

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

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Concerning 'Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease' by Nascimbeni et al by Starosta, Rodrigo T., Álvares‐da‐Silva, Mário R., Schwartz, Ida Vanessa D.

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Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism by Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas

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Consequences of the judicialization of health policies: the cost of medicines for mucopolysaccharidosis by Diniz, Debora, Medeiros, Marcelo, Schwartz, Ida Vanessa D

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Elevated holo‐transcobalamin in Gaucher disease type II: A case report by Basgalupp, Suelen Porto, Donis, Karina Carvalho, Siebert, Marina, e Vairo, Filippo Pinto, Artigalas, Osvaldo, Camargo Pinto, Louise L., Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa D.

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GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms by Ludwig, Nataniel Floriano, Velho, Renata Voltolini, Sperb-Ludwig, Fernanda, Acosta, Angelina Xavier, Ribeiro, Erlane Marques, Kim, Chong A., Gandelman Horovitz, Dafne Dain, Boy, Raquel, Rodovalho-Doriqui, Maria Juliana, Lourenço, Charles Marques, Santos, Emerson Santana, Braulke, Thomas, Pohl, Sandra, Schwartz, Ida Vanessa D.

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Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry by Elstein, Deborah, Belmatoug, Nadia, Bembi, Bruno, Deegan, Patrick, Fernandez-Sasso, Diego, Giraldo, Pilar, Göker-Alpan, Özlem, Hughes, Derralynn, Lau, Heather, Lukina, Elena, Revel-Vilk, Shoshana, Schwartz, Ida Vanessa D, Istaiti, Majdolen, Botha, Jaco, Gadir, Noga, Schenk, Jörn, Zimran, Ari

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Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations by Alemar, Bárbara, Herzog, Josef, Netto, Cristina Brinckmann Oliveira, Artigalas, Osvaldo, Schwartz, Ida Vanessa, Bittar, Camila, Ashton-Prolla, Patricia, Weitzel, Jeffrey

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Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease by Scaini, Giselli, Tonon, Tássia, Moura de Souza, Carolina F., Schuck, Patricia F., Ferreira, Gustavo C., Quevedo, João, Neto, João Seda, Amorim, Tatiana, Camelo, Jose S., Margutti, Ana Vitoria Barban, Hencke Tresbach, Rafael, Sperb-Ludwig, Fernanda, Boy, Raquel, de Medeiros, Paula F. V., Schwartz, Ida Vanessa D., Streck, Emilio Luiz

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

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Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients by Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.

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Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: A systematic review and metanalysis by Dornelles, Alícia D., Schwartz, Ida Vanessa D.

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Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review by Doneda, Divair, Netto, Cristina B, Moulin, Cileide C, Schwartz, Ida Vanessa D

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KIR genes and HLA class I ligands in Gaucher disease by Vairo, Filippo, Portela, Pâmela, Salim, Patrícia H., Jobim, Mariana, Netto, Cristina, Dorneles, Alicia, Mittlestadt, Suzana, Jobim, Luiz Fernando, Schwartz, Ida Vanessa D.

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Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe? by Dornelles, Alícia Dorneles, MD, de Oliveira Netto, Cristina Brinckmann, Vairo, Filippo, de Mari, Jurema Fatíma, Tirelli, Kristiane Michelin, Schwartz, Ida Vanessa D

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