Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set von Bösch, Florin, Landolt, Markus A., Baumgartner, Matthias R., Zeltner, Nina, Kölker, Stefan, Gleich, Florian, Burlina, Alberto, Cazzorla, Chiara, Packman, Wendy, V. D. Schwartz, Ida, Neto, Eduardo, Ribeiro, Márcia G., Martinelli, Diego, Olivieri, Giorgia, Huemer, Martina

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A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay von Santos-Rebouças, Cíntia B., Fintelman-Rodrigues, Natalia, Jensen, Lars R., Kuss, Andreas W., Ribeiro, Márcia G., Campos, Mário, Santos, Jussara M., Pimentel, Márcia M.G.

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Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion von de Castro, Carolina Monteiro Leite, Pereira, Carolina Oliveto Bastos, Aprigio, Joissy, Costa Lima, Marcelo A., Ribeiro, Márcia G., Amorim, Márcia Rodrigues

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Mothers of children with Down syndrome: a clinical and epidemiological study von Aprigio, Joissy, de Castro, Carolina M. L., Lima, Marcelo A. Costa, Ribeiro, Márcia G., Orioli, Iêda M., Amorim, Márcia R.

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Hereditary angioedema: a prospective study of a Brazilian single‐center cohort von Alonso, Maria L. O., Valle, Solange O. R., Tórtora, Rosângela P., Grumach, Anete S., França, Alfeu T., Ribeiro, Márcia G.

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Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey von Horovitz, Dafne D G, Ribeiro, Márcia G, Acosta, Angelina X, Monteiro, Ana C, Botha, Jaco, Giugliani, Roberto

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Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil von Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, d. M. Carvalho, Lilian, Lacerda, Lúcia, G. Ribeiro, Márcia

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Genotype‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil von Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M., Lacerda, Lúcia, Ribeiro, Márcia G.

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Betaine–homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population von Amorim, Márcia R., Moura, Cláudia M., Gomes, Aline D., Barboza, Hazel N., Lopes, Roberta B., Ribeiro, Márcia G., Costa Lima, Marcelo A.

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Single median maxillary central incisor: New data and mutation review von El-Jaick, Kênia B., Fonseca, Renata F., Moreira, Miguel A., Ribeiro, Márcia G., Bolognese, Ana M., Dias, Sânia O., Pereira, Eliane T., Castilla, Eduardo E., Orioli, Iêda M.

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Clinical characteristics of alopecia areata in Down syndrome von Lima Estefan, Juliany, Queiroz, Mariana, Costa, Fabricio F, Coutinho, Marcelo P, Higino, Kalynka, Clinton Llerena, Juan, Vargas, Fernando R, Santos, Suely, Geller, Mauro, Ribeiro, Márcia G

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Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil von Vieira Neto, Eduardo, Laranjeira, Francisco, Quelhas, Dulce, Ribeiro, Isaura, Seabra, Alexandre, Mineiro, Nicole, Carvalho, Lilian M, Lacerda, Lúcia, Ribeiro, Márcia G

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Insulin resistance in adolescents with Down syndrome: a cross-sectional study von Fonseca, Cristina T, Amaral, Daniela M, Ribeiro, Márcia G, Beserra, Izabel C R, Guimarães, Marília M

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A clinical study of 77 patients with mucopolysaccharidosis type II von Schwartz, Ida VD, Ribeiro, Márcia G, Mota, João G, Toralles, Maria Betânia P, Correia, Patrícia, Horovitz, Dafne, Santos, Emerson S, Monlleo, Isabella L, Fett-Conte, Agnes C, Sobrinho, Ruy P Oliveira, Norato, Denise YJ, Paula, Anna Carolina, Kim, Chong A, Duarte, Andréa R, Boy, Raquel, Valadares, Eugênia, De Michelena, Maria, Mabe, Paulina, Martinhago, Cyro D, Pina-Neto, João M, Kok, Fernando, Leistner-Segal, Sandra, Burin, Maira G, Giugliani, Roberto

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IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome von Beserra, Izabel C. R., Ribeiro, Márcia G., Collett-Solberg, Paulo F., Vaisman, Mário, Guimarães, Marília M.

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Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population von Orioli, Iêda M., Ribeiro, Márcia G., Castilla, Eduardo E.

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Screening Fabry Disease in Women Combining Enzyme Activity with Lyso-GL3: Results of a Brazilian Study: FR-PO845 von Silva, Cassiano Augusto, Barreto, Fellype, Neto, Osvaldo M. Vieira, Lucca, Leandro J., Vieira, Fernando A., Gueiros, Ana Paula, Boger, Marta V., Silva, Artur Q., Guedes, Felipe Leite, Israel, Karla Cristina P., Gordon, Gina Moreno, Souza, Eduarda M., Veloso, Valeria, Sevignani, Gabriela, Barretto, Carolina, Pascotto, Roberta C., Ennes, Gelzie S., Ribeiro, Márcia G., de Andrade, Luis Gustavo Modelli

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Partial Results of a Brazilian Study Evaluating an Alternative Method for Fabry Disease Screening in Women: PUB196 von Silva, Cassiano Augusto, Barreto, Fellype, Vieira Neto, Osvaldo M., Lucca, Leandro J., Barretto, Carolina, Veloso, Valeria, Sevignani, Gabriela, Carvalho, Luiz Roberto, Boger, Marta V., Pascotto, Roberta C., Israel, Karla Cristina P., Gueiros, Ana Paula, Silva, Artur Q., Guedes, Felipe Leite, Ennes, Gelzie S., Souza, Eduarda M., Gordon, Gina Moreno, Vieira, Fernando A., Ribeiro, Márcia G., de Andrade, Luis Gustavo Modelli

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Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome von Miranda, Debora M., Wajchenberg, Bernardo L., Calsolari, Maria R., Aguiar, Marcos J., Silva, José M. C. L., Ribeiro, Marcia G., Fonseca, Cristina, Amaral, Daniela, Boson, Wolfanga L., Resende, Bruna A., De Marco, Luiz

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IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome von Beserra, Izabel C R, Ribeiro, Márcia G, Collett-Solberg, Paulo F, Vaisman, Mário, Guimarães, Marília M

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