Proteus syndrome: Clinical diagnosis of a series of cases

Autor Alves, Cresio, Acosta, Angelina X., Toralles, Maria Betânia P.
Vydáno 2013

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Autor Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Ribeiro, Erlane M., Lourenço, Charles M., Kim, Chong Ae, Valadares, Eugênia R., Galera, Marcial Francis, Acosta, Angelina X., Horovitz, Dafne Dain Gandelman, Schwartz, Ida Vanessa Doederlein
Vydáno v J Pediatr Genet (2019)

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Autor MANZOLI, GABRIELLE N., BADEMCI, GUNEY, ACOSTA, ANGELINA X., FÉLIX, TÊMIS M., CENGIZ, F.BASAK, FOSTER, JOSEPH, DIAS DA SILVA, DANNIEL S., MENENDEZ, IBIS, SANCHEZ-PENA, ISALIS, TEKIN, DEMET, BLANTON, SUSAN H., ABE-SANDES, KIYOKO, LIU, XUE ZHONG, TEKIN, MUSTAFA
Vydáno v Ann Hum Genet (2016)

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series

Autor Horovitz, Dafne Dain Gandelman, Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C., Lopes Barth, Anneliese, Cardoso, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria
Vydáno v Orphanet J Rare Dis (2016)