Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the... by Molina‐Céspedes, Paula, Ruiz‐Golcher, Ernesto José, Badilla‐Barboza, Oscar, Sedó‐Mejía, Giovanni, Barboza‐Rodríguez, Laura, Badilla‐Porras, Ramsés

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O-41 CIRRHOSIS IN PATIENTS WITH ALFA 1 ANTITRYPSIN DEFICIENCY; WHAT ARE WE MISSING? by Hevia, Francisco, Hernández, Daniela, Mora, Alfredo, Badilla, Ramsés, Camacho, Natassia, Jiménez, Mildred, Saborío, Manuel, Hidalgo, Karina, González, Adrián, Vargas, Francisco, Ramírez, Wagner, Cob, Esteban, Carvajal, Aldo, Madrigal, Ana Lorena, Cortes, José Pablo, Vargas, Jorge, Alvarado, Danny

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O-38 FULMINANT WILSON: A WELL-DEFINED ENTITY. HOW TO DIAGNOSE IT QUICKLY TO PREVENT MORTALITY by Hevia, Francisco, Penón, Mónica, Lotz, Stephanie, Mora, Alfredo, Jiménez, Gabriela, Badilla, Ramsés, Jiménez, Mildred, Saborío, Manuel, Hidalgo, Karina, González, Adrián, Vargas, Francisco, Ramirez, Wagner, Cob, Esteban, Carvajal, Aldo, Madrigal, Ana Lorena, Cortes, José Pablo, Vargas, Jorge, Alvarado, Danny

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Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey by Poloni, Soraia, Dos Santos, Bruna Bento, Chiesa, Ana, Specola, Norma, Pereyra, Marcela, Saborío-Rocafort, Manuel, Salazar, María Florencia, Leal-Witt, María Jesús, Castro, Gabriela, Peñaloza, Felipe, Wong, Sunling Palma, Porras, Ramsés Badilla, Paranza, Lourdes Ortiz, Sanabria, Marta Cristina, Amieva, Marcela Vela, Morales, Marco, Naranjo, Amanda Rocío Caro, Mahfoud, Antonieta, Colmenares, Ana Rosa, Lemes, Aida, Sotillo-Lindo, José Fernando, Perez, Ceila, Rey, Laritza Martínez, Torriente, Georgina María Zayas, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein, Cornejo, Veronica

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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization by Penon‐Portmann, Monica, Lotz‐Esquivel, Stephanie, Chavez Carrera, Alejandra, Jiménez‐Hernández, Mildred, Alvarado‐Romero, Danny, Segura‐Cordero, Sharon, Rimolo‐Donadio, Fiorella, Hevia‐Urrutia, Francisco, Mora‐Guevara, Alfredo, Saborío‐Rocafort, Manuel, Jiménez‐Arguedas, Gabriela, Badilla‐Porras, Ramsés

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Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome by Penon‐Portmann, Monica, Westbury, Sarah K., Li, Ling, Pluthero, Fred G., Liu, Richard J. Y., Yao, Helen H. Y., Geng, Ryan S. Q., Warner, Neil, Muise, Aleixo M., Lotz‐Esquivel, Stephanie, Howell‐Ramirez, Marianela, Saborío‐Chacon, Pablo, Fernández‐Rojas, Sara, Saborio‐Rocafort, Manuel, Jiménez‐Hernández, Mildred, Wang‐Zuniga, Carolina, Cartín‐Sánchez, Walter, Shieh, Joseph T., Badilla‐Porras, Ramses, Kahr, Walter H. A.

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Williams–Beuren syndrome in diverse populations by Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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Rubinstein–Taybi syndrome in diverse populations by Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul

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Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency by Munoz, Tatiana, Patel, Jinesh, Badilla-Porras, Ramses, Kronick, Jonathan, Mercimek-Mahmutoglu, Saadet

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Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features by Nimmo, Graeme A. M., Guerin, Andrea, Badilla-Porras, Ramses, Stavropoulos, Dimitri J., Yoon, Grace, Carter, Melissa T.

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Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene by Mendoza-Londono, Roberto, Chitayat, David, Kahr, Walter H.A., Hinek, Aleksander, Blaser, Susan, Dupuis, Lucie, Goh, Elaine, Badilla-Porras, Ramses, Howard, Andrew, Mittaz, Laureane, Superti-Furga, Andrea, Unger, Sheila, Nishimura, Gen, Bonafe, Luisa

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Cover Image, Volume 176A, Number 5, May 2018 by Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy by Glen, Jr, W Bailey, Peterseim, M Millicent W, Badilla, Ramses, Znoyko, Iya, Bourg, Andre, Wilson, Robert, Hardiman, Gary, Wolff, Daynna, Martinez, Joaquin

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Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis by Wengryn, Parker, Silveira, Karina da Costa, Oborn, Connor, Soltys, Carrie-Lynn, Beke, Alexander, Chacon-Fonseca, Inara, Damseh, Nadirah, Rodriguez, Marco Quesada, Badilla-Porras, Ramses, Kannu, Peter

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Clinical follow-up of Niemann–Pick disease type C patients, natural history and the importance of the disability scale assessing neurological disease progression by Badilla-Porras, Ramses, Saleh, Maha, Mahuran, Don, Rigat, Brigitte, Clarke, J.T.R., Mackrell, Margaret, Raiman, Julian

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Investigation of the genotype-phenotype correlation in the Toronto Niemann-Pick type C disease population by Saleh, Maha, Rigat, Brigitte, Badilla-Poras, Ramses, Mahuran, Don, Mackrell, Margaret, Clarke, Joe, Raiman, Julian

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Extracellular Matrix and Platelet Function in Patients With Musculocontractural Ehlers―Danlos Syndrome Caused by Mutations in the CHSTS4 Gene by MENDOZA-LONDONO, Roberto, CHITAYAT, David, SUPERTI-FURGA, Andrea, UNGER, Sheila, NISHIMURA, Gen, BONAFE, Luisa, KAHR, Walter H. A, HINEK, Aleksander, BLASER, Susan, DUPUIS, Lucie, GOH, Elaine, BADILLA-PORRAS, Ramses, HOWARD, Andrew, MITTAZ, Laureane

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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy by Glen, W. Bailey, Peterseim, M. Millicent W., Badilla, Ramses, Znoyko, Iya, Bourg, Andre, Wilson, Robert, Hardiman, Gary, Wolff, Daynna, Martinez, Joaquin

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Consenso del Grupo Centroamericano y del Caribe para el Estudio y Tratamiento de la Enfermedad de Fabry by García-Trabanino, Ramón, Badilla-Porras, Ramses, Carazo, Kenneth, Courville, Karen, de Luna, Esther, Lemus, Patricia, Pérez de Ferran, Ceila, Posadas, Rubén, Quintanilla de Sánchez, Leana, Ramos, Gustavo, Rivera de Castillo, Erlinda, Rodríguez, Sandra, Saborío, Manuel, Valdes, Régulo A., Vásquez, Carolina

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