Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
Flanagan, S E, Kapoor, R R, Mali, G, Cody, D, Murphy, N, Schwahn, B, Siahanidou, T, Banerjee, I, Akcay, T, Rubio-Cabezas, O, Shield, J P H, Hussain, K, Ellard, S
Published in European journal of endocrinology (01.05.2010)
Published in European journal of endocrinology (01.05.2010)
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Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene
Rubio‐Cabezas, O, Díaz González, F, Aragonés, A, Argente, J, Campos‐Barros, A
Published in Pediatric diabetes (01.06.2008)
Published in Pediatric diabetes (01.06.2008)
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Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene
Rubio-Cabezas, O, Regueras, L, Muñoz-Calvo, M T, Bartolomé, M, Pozo, J, Argente, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2010)
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Hipoaldosteronismo primario e hipoacusia bilateral moderada en un niño con una mutación sin sentido en homocigosis (Thr318Met) en el gen CYP11B2
Rubio-Cabezas, O, Regueras, L, Muñoz-Calvo, M.T, Bartolomé, M, Pozo, J, Argente, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
Fernández-Rebollo, Eduardo, Lecumberri, Beatriz, Garin, Intza, Arroyo, Javier, Bernal-Chico, Ana, Goñi, Fernando, Orduña, Rosa, Castaño, Luis, Pérez de Nanclares, Guiomar
Published in European journal of endocrinology (01.12.2010)
Published in European journal of endocrinology (01.12.2010)
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Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus
Perez-Nanclares, Gustavo, Romanelli, Valeria, Mayo, Sonia, Garin, Intza, Zazo, Celia, Fernandez-Rebollo, Eduardo, Martínez, Francisco, Lapunzina, Pablo, de Nanclares, Guiomar Pérez, the Spanish PHP Group
Published in The journal of clinical endocrinology and metabolism (01.06.2012)
Published in The journal of clinical endocrinology and metabolism (01.06.2012)
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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar
Published in BMC medical genetics (02.03.2018)
Published in BMC medical genetics (02.03.2018)
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Diabetes mellitus in children and adolescents: chronic complications and associated diseases
Rubio Cabezas, O, Argente Oliver, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2007)
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Published in Anales de pediatría (Barcelona, Spain : 2003) (01.03.2007)
Journal Article
Hipoaldosteronismo primario e hipoacusia bilateral moderada en un niño con una mutación sin sentido en homocigosis (Thr318Met) en el gen CYP1182
RUBIO-CABEZAS, O, REGUERAS, L, MUNOZ-CALVO, M. T, BARTOLOME, M, POZO, J, ARGENTE, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
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Published in Anales de pediatría (Barcelona, Spain : 2003) (2010)
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Graves' disease in children: management and review of 20 patients
Rubio Cabezas, O, Muñoz Calvo, María T, Pozo Román, J, Argente Oliver, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2004)
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Published in Anales de pediatría (Barcelona, Spain : 2003) (01.08.2004)
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Nutrición enteral ambulatoria en niños con cáncer Out-patient enteral nutrition in children with cancer
C Pedrón Giner, O Rubio Cabezas, A Aparicio, B García Alcolea, D Madruga Acerete, M González Vicent
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.05.2004)
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Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01.05.2004)
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Síndrome de hiperinsulinismo- hiperamoniemia por mutación de novo en el exón 7 (G979A) del gen GLUD-1, con excelente respuesta a diazóxido
Montero Luis, C, Pozo Román, J, Muñoz Calvo, MªT, Martos Moreno, G, Donoso, MªA, Rubio Cabezas, O, Argente Oliver, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2004)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2004)
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Journal Article
Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide
Montero Luis, C, Pozo Román, J, Muñoz Calvo, María T, Martos Moreno, G, Donoso, María A, Rubio Cabezas, O, Argente Oliver, J
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2004)
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Published in Anales de pediatría (Barcelona, Spain : 2003) (01.11.2004)
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