Search Results - "Oliván del Cacho, M J"

Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants by Martínez-Frías, María Luisa, Bermejo, Eva, Rodríguez-Pinilla, Elvira, Prieto, David

“…Most studies associating different types of malformations with the presence of a single umbilical artery (SUA) are based on small and selected series. Here, we…”
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Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility? by Martínez-Frías, María Luisa

“…In a previous study on single umbilical artery (SUA) and its association with congenital defects, we observed a serendipitous association between isolated skin…”
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Almost symptom free disseminated tuberculosis severely affecting the central nervous system by Oliván del Cacho, M J, Ferrero Cáncer, M, Fayed Miguel, N, Lacasa Arregui, A

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Tuberculosis diseminada con afectación grave del sistema nervioso central poco sintomática by Oliván del Cacho, M.J, Ferrero Cáncer, M, Fayed Miguel, N, Lacasa Arregui, A

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Serous otitis and ciliary dyskinesia syndrome by Morais Pérez, D, Bernat Gilli, A, Ayerbe Torrero, V, Oliván del Cacho, M J

“…Ciliary dyskinesia syndrome or immotile cilia syndrome, is a congenital defect in the ultrastructure of cilia, which result in a clinical expression diverse:…”
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Almost symptom free disseminated tuberculosis severely affecting the central nervous system by Oliván del Cacho, M J, Ferrero Cáncer, M, Fayed Miguel, N, Lacasa Arregui, A

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Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain by Arroyo Carrera, I, Martínez-Frías, M L, Marco Pérez, J J, Paisán Grisolía, L, Cárdenes Rodríguez, A, Nieto Conde, C, Félix Rodríguez, V, Egüés Jimeno, J J, Morales Fernández, M C, Gómez-Ullate Vergara, J, Pardo Romero, M, Peñas Valiente, A, Oliván del Cacho, M J, Lara Palma, A

“…Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is…”
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Prune-belly syndrome in a female by Sierra Sirvent, J F, Martínez Escribano, M P, Oliván Del Cacho, M J, Heras Gironella, M, Ríos Mitchell, M J, Loris Pablo, C

“…Authors describe a case of newborn whose malformations of genitourinary tract of abdominal muscles deficiency and renal dysplasia make it very compatible with…”
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Xanthine lithiasis in a case of Lesch-Nyhan syndrome treated with allopurinol by Loris Pablo, C, Oliván del Cacho, M J, Heras Gironella, M, Sierra Sirvant, J, Martínez Escribano, M P, Izaguirre Zugazaga, C, Lázaro Castillo, J, March, A

“…Classically it is considered that vital prognosis of Lesch-Nyhan syndrome depends on renal affectation secondary to uric nephropathy. A case of Lesch-Nyhan…”
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Chronic renal insufficiency secondary to infectious mononucleosis by Oliván del Cacho, M J, Heras Gironella, M, Sierra Sirvent, J, Martínez Escribano, M P, Izaguirre Zugazaga, C, Plaza Mas, L, Loris Pablo, C

“…This report describes the first pediatric case of chronic renal failure as a complication of infectious mononucleosis in a 3 1/2 year old girl. The clinical…”
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A patient with Pearson and Kearns-Sayre syndrome and a common 4.9 Kb deletion of mitochondrial DNA in blood by Guirado Giménez, F, Montoya Villarroya, J, Oliván del Cacho, M J, Playán Ariso, A, Alcaine Villarroya, M J, Rábano Rodríguez, A, Baldellou Vázquez, A, López-Pisón, J

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Persistent neutropenia in congenital cytomegalovirus infection. A case report by Fuertes Fernández-Espinar, J, Tajada Cebrián, N, Ubalde Sainz, E, Gonzalvo Davoli, N, Lacasa Arregui, A, Vera Cristóbal, F, Oliván del Cacho, M J, De Juan Martín, F

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Ciliary dyskinesia syndrome in childhood: apropos of a case by Oliván del Cacho, M J, Calvo Escribano, M A, Calvo Aguilar, M J, Carrasco Almazor, J, Sánchez Ufarte, C, Sierra Sirven, J, Domínguez Cunchillos, M, Morais Pérez, D

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Leopard syndrome. Report of 3 new cases by Oliván del Cacho, M J, Salazar Mena, J, Zarazaga, G, García de la Calzada, M D, Felipe Villaverde, J

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Hypertransaminasemia as first manifestation of celiac disease by Olivan del Cacho, M J, Ros Mar, L

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