Five patients with disorders of calcium metabolism presented with GCM2 gene variants
García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia
Published in Scientific reports (03.02.2021)
Published in Scientific reports (03.02.2021)
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Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Published in BMC medical genetics (08.09.2011)
Published in BMC medical genetics (08.09.2011)
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Nutrition recommendations for patients with pseudohypoparathyroidism
Miñones-Suarez, Lorena, Pérez de Nanclares, Guiomar, Marín-del Barrio, Silvia, Alcázar Villar, María José, de Sotto-Esteban, Diego, Mogas, Eduard, Rey Cordo, Lourdes, Riaño-Galán, Isolina, Lumbreras Fernández, Javier, Leis, Rosaura
Published in Anales de Pediatría (01.08.2023)
Published in Anales de Pediatría (01.08.2023)
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Recomendaciones nutricionales para pacientes con seudohipoparatiroidismo
Miñones-Suarez, Lorena, Pérez de Nanclares, Guiomar, Marín-del Barrio, Silvia, Alcázar Villar, María José, de Sotto-Esteban, Diego, Mogas, Eduard, Rey Cordo, Lourdes, Riaño-Galán, Isolina, Lumbreras Fernández, Javier, Leis, Rosaura
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2023)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2023)
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Nutrition recommendations for patients with pseudohypoparathyroidism
Lorena Miñones-Suarez, Guiomar Pérez de Nanclares, Silvia Marín-del Barrio, María José Alcázar Villar, Diego de Sotto-Esteban, Eduard Mogas, Lourdes Rey Cordo, Isolina Riaño-Galán, Javier Lumbreras Fernández, Rosaura Leis
Published in Anales de Pediatría (01.08.2023)
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Published in Anales de Pediatría (01.08.2023)
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Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study
García-Castaño, Alejandro, Madariaga, Leire, Pérez de Nanclares, Gustavo, Ariceta, Gema, Gaztambide, Sonia, Castaño, Luis
Published in European journal of endocrinology (01.01.2019)
Published in European journal of endocrinology (01.01.2019)
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Journal Article
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25
Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Published in BMC medical genetics (08.09.2011)
Published in BMC medical genetics (08.09.2011)
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Journal Article
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25.sub.2 D serum levels are associated with PHEX mutation type
Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Published in BMC medical genetics (08.09.2011)
Published in BMC medical genetics (08.09.2011)
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Journal Article
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2 D serum levels are associated with PHEX mutation type
Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
Published in BMC medical genetics (01.01.2011)
Published in BMC medical genetics (01.01.2011)
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Journal Article