Search Results - "Pineda Marfà, M"

Thymectomy in juvenile myasthenia gravis by Camacho-Salas, A, Vernet, A, Colomer-Oferil, J, Pineda-Marfà, M, Campistol, J, Ribó, J M, Medina, M

“…Juvenile myasthenia gravis (JMG) is an infrequent autoimmune disease, the symptoms and therapeutic handling of which do not differ from those of the adult…”
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Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease by Rodríguez Rodríguez, C M, Pineda Marfa, M, Duque, R, Cormier-Daire, V

“…Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive disorder produced by mutations in the Dymeclin gene recently identified. It is…”
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Tortícolis e hiperextensión espinal. Presentación inusual del síndrome de Guillain-Barré by Martínez Planas, A, Panzino Occhiuzzo, F, Colomer Oferill, J, Pineda Marfa, M, Luaces Cubells, C

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Abnormal antioxidant system in inborn errors of intermediary metabolism by Vilaseca-Buscà, M A, Artuch-Iriberri, R, Colomé-Mallolas, C, Brandi-Tarrau, N, Campistol, J, Pineda- Marfá, M, Sierra-March, C

“…Oxidative stress may be implied in the pathogenic mechanisms of inborn errors of intermediary metabolism (IEIM). The evaluation of the antioxidant status in…”
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O42 – 1909 FOXG1 gene: phenotype–genotype relation in Spanish patients by Pineda Marfa, M, O'Callaghan Gordo, M, Gerotina Mora, E, Quandt Herrera, E, Rabaza Gairí, M, Brandi Tarrau, N, Cortès Saladelafont, E, Roche Martínez, A, Armstrong Morón, J

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P18.12 Juvenile Neuronal Ceroid Lipofuscinosis: Clinical evolution and genetic studies in Spanish patients by del Socorro Pérez Poyato, M., Recasens, M. Milá, Abizanda, I. Ferrer, Sanchez, R. Montero, Sánchez, V. Cusí, Marfa, M. Pineda

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3FC1.2 Niemann-Pick disease type C when to give and discontinue treatment with substrate inhibitor therapy by Marfa, M. Pineda, del Socorro Pérez Poyato, M., del MarO' Callaghan Gordo, M., Vidal, J. Macías, Coll i Coll, M. Josep, Aracil, A.

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Neurological involvement in rheumatic disorders and vasculitis in childhood by Pineda Marfa, M

“…The rheumatic disorders and vasculites are inflammatory processes affecting connective tissue in different organs. The inflamed cells liberate destructive…”
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O6-2 Cerebral PET and disability evaluation in patients with Niemann Pick disease Type C treated with miglustat by Poyato, M.S. Perez, Marfa, M. Pineda, Vilaseca, M.A, Gordo, M.M. O'Callaghan, Macias, J, Coll, M.J

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Propuesta de protocolo de estudio de las enfermedades cerebrovasculares de la infancia by Cardo Jalón, E., Pineda Marfà, M., Artuch Iriberri, R., Vilaseca Buscà, M.A., Campistol Plana, J.

“…La etiología de la enfermedad cerebrovascular en la población pediátrica permanece sin aclarar hasta en un 40% de los casos. Recientes avances en el…”
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Timectomía en la miastenia grave juvenil by Camacho Salas, Ana, Vernet Bori, Ana María, Colomer Oferil, Jaume, Pineda Marfà, Mercè, Campistol Plana, Jaume, Ribó, José María, Medina, Mercedes

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Alteraciones del sistema antioxidante en errores congénitos del metabolismo intermediario by Vilaseca Buscà, Maria Antònia, Artuch Iriberri, Rafael, Colomé Mallolas, Catrina, Brandi Tarrau, Núria, Campistol Plana, Jaume, Pineda Marfà, Mercè, Sierra March, Cristina

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Proposed protocol for the study of cerebrovascular disease in childhood by Cardo Jalón, E, Pineda Marfà, M, Artuch Iriberri, R, Vilaseca Buscà, M A, Campistol Plana, J

“…The etiology of cerebrovascular disease in the paediatric population, remains unknown in up to 40% of the cases ("idiopathic"), but recent advances could…”
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Torticollis and hyperextended spine: unusual presentation of Guillain-Barré syndrome by Martínez Planas, A, Panzino Occhiuzzo, F, Colomer Oferill, J, Pineda Marfa, M, Luaces Cubells, C

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Idiopathic palatopharyngeal hemiparalysis by González Alvarez, V, Costa Orvay, J A, Guardia Camí, M T, Garrido Romero, R, Pineda Marfá, M, Luaces Cubells, C

“…Idiopathic velopalatine palsy is a condition of unknown etiology and is rarely seen in childhood. Consequently, diagnosis requires a high degree of suspicion…”
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Hemiparálisis velopalatina idiopática by González Álvarez, V., Costa Orvay, J.A., Guardia Camí, M.T., Garrido Romero, R., Pineda Marfá, M., Luaces Cubells, C.

“…La hemiparálisis velopalatina idiopática es una entidad de etiología desconocida excepcional en pediatría; por ello, su diagnóstico exige un alto índice de…”
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Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical morphology by Vila Torres, J, Pineda Marfa, M, González Enseñat, M A, Lloreta Trull, J

“…Only nine cases of Costello syndrome have been described so far. No definitive pathologic abnormalities have been found on skin biopsies. We undertook a…”
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Torticollis and hyperextended spine: unusual presentation of Guillain-Barré syndrome by Martínez Planas, A, Panzino Occhiuzzo, F, Colomer Oferill, J, Pineda Marfa, M, Luaces Cubells, C

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Alternating hemiplegia in infancy: clinical features, clinical course and treatment based on three cases by Campistol Plana, J, Sans Fitó, A, Pineda Marfá, M, Fernández-Alvarez, E

“…Alternating hemiplegia is an infrequent form of complicated migraine. Clinical course has similarities with seizure disorders and correct diagnosis may be…”
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Idiopathic inflammatory myopathies in childhood. A study of 7 patients by Colomer Oferil, J, Vidal Sanahuja, R, Pineda Marfa, M, Prat, M, Fernández Alvarez, E

“…Five patients with dermatomyositis and 2 with polymyositis between 3 and 12 years old are reviewed. All of them fulfil the Bohan and Peter diagnostic criteria…”
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