Search Results - "Galán Gómez, E."

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX by Rodríguez Criado, G, Galán Gómez, E, Tizzano, E F, García Rodríguez, E, Gómez de Terreros, I

“…We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin…”
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Trimetilaminuria primaria o síndrome del olor a pescado: diagnóstico precoz desde atención primaria by Romero García, A, Bermejo Pastor, M, Benito Alonso, E, Barros Angueira, F, Galán Gómez, E

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Síndrome de Allgrove (triple A). Hallazgo de una mutación no descrita en el gen AAAS by Capataz Ledesma, M, Méndez Pérez, P, Rodríguez López, R, Galán Gómez, E

“…Resumen El síndrome de Allgrove (triple A) es una enfermedad autosómica recesiva rara. La tríada clásica incluye insuficiencia adrenal congénita debida a…”
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Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children by Galán-Gómez, E, Cardesa-García, J J, Campo-Sampedro, F M, Salamanca-Maesso, C, Martínez-Frías, M L, Frías, J L

“…We describe 5 Spanish children with Kabuki make-up syndrome (KMS)-3 females and 2 males-identified in Badajoz, Spain, between 1988 and 1990. All had the…”
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First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS) by Alcalde-Martín, C, Muro-Tudelilla, J.M, Cancho-Candela, R, Gutiérrez-Solana, L.G, Pintos-Morell, G, Martí-Herrero, M, Munguira-Aguado, P, Galán-Gómez, E

“…Abstract Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme…”
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Esophageal atresia in the Goldenhar syndrome by Ayuso Velasco, R, Torres Aguirre, A, Enríquez Zarabozo, E, Galán Gómez, E, Blesa Sánchez, E

“…Among the multiple congenital defects associated to esophagueal atresia, the characteristic ones of the Goldenhar syndrome usually are not included. The high…”
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Digestive malformations and their associations to syndrome condition and genetic defects by Enríquez Zarabozo, E, Blesa Sánchez, E, Ayuso Velasco, R, Galán Gómez, E

“…The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience…”
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Feocromocitoma asociado a síndrome paraganglionar by Moreno Tejero, M.L., Pintor Trevejo, M., Martín Ruiz, C., Galán Gómez, E.

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Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene by Capataz Ledesma, M, Méndez Pérez, P, Rodríguez López, R, Galán Gómez, E

“…Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance,…”
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Clitoromegaly in neurofibromatosis by Sutphen, R, Galán-Goméz, E, Kousseff, B G

“…Genitourinary neurofibromas are rare and clitoral involvement in neurofibromatosis (NF) has been reported infrequently. However, when it occurs, clitoromegaly…”
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Familial adenomatous polyposis: Gardner's syndrome by Núñez Núñez, R, Galán Gómez, E, Moreno Hurtado, C, Romero Albillo, A, Santamaría Ossorio, J I

“…Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner's syndrome of autosomal dominant inheritance. The…”
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Phaeochromocytoma associated with a paraganglion syndrome by Moreno Tejero, M L, Pintor Trevejo, M, Martín Ruiz, C, Galán Gómez, E

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Feocromocitoma asociado a síndrome paraganglionar by Moreno Tejero, M.L, Pintor Trevejo, M, Martín Ruiz, C, Galán Gómez, E

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Diagnóstico del síndrome 9p­- al nacimiento. Una nueva observación by Fernández Calderón, E, Galán Gómez, E, Carbonell Pérez, JM, Sáenz Hurtado, J, Ledesma Alcázar, MC, Cardesa García, JJ

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De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case by Carbonell Pérez, J M, Galán Gómez, E, Sáenz Hurtado, J, Rodríguez Martínez, L, Cardesa García, J J, Martínez Frías, M L

“…We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features…”
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Duplicación parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31→qter) by Galán Gómez, E, Sáenz Hurtado, J, Rodríguez Martínez, L, Carbonell Pérez, JM, Cardesa García, JJ, Martínez Frías, ML

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Primary trimethylaminuria or fish odour syndrome: early diagnosis from primary care by Romero García, A, Bermejo Pastor, M, Benito Alonso, E, Barros Angueira, F, Galán Gómez, E

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Holt-Oram syndrome by Cáceres Marzal, C, Galán Gómez, E, Campo Sampedro, F M, Cardesa García, J J

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Síndrome de Holt-Oram by Cáceres Marzal, C., Galán Gómez, E., Campo Sampedro, F.M., Cardesa García, J.J.

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Diagnóstico del síndrome 9p–al nacimiento. Una nueva observación by Fernández Calderón, E., Galán Gómez, E., Carbonell Pérez, J.M., Sáenz Hurtado, J., Ledesma Alcázar, M.C., Cardesa García, J.J.

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