Results 81 to 90 of about 510 (147)

[Marfan's syndrome]. [PDF]

Aten Primaria, 2009
Valderrama Zurián FJ, Martín Gutiérrez V, Sorlí JV, Mingarro Castillo M, Ejarque Doménech I, Ortiz Uriarte R, García Ribes M.   +6 more
europepmc   +1 more source

Marfan syndrome. Report of a patient

Acta Médica del Centro, 2015
Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or
Luis Alberto Santos Pérez, Eric González Fernández, Cándida Grisel Milián Hernández   +2 more
doaj  

Bulky Mitral Annulus Caseous Calcification in an Atypical Location. [PDF]

Arq Bras Cardiol, 2022
Correia JL, Correia M.
europepmc   +1 more source

Marfan's syndrome: an overview. [PDF]

Sao Paulo Med J, 2010
Yuan SM, Jing H.
europepmc   +1 more source

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases. [PDF]

Mol Genet Metab Rep, 2023
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E.   +19 more
europepmc   +1 more source

Síndrome de Marfan en edad adulta: a propósito de un caso

, 2014
Marfan syndrome is an autosomal dominant connective tissue disorder, caused by a defect in the fibrillin-1 gene, which plays an important role in the formation of elastic tissues. It is diagnosed on clinical grounds, some of which depend on growth.
Rodríguez Lemus, Gerardo, Martínez García, Geovedy   +1 more
core  

Conhecimento sobre o síndrome de Marfan : contributos para a criação e validação de um instrumento de avaliação

, 2016
Dissertação de mestrado em Gestão e Economia da Saúde, apresentada à Faculdade de Economia da Universidade de Coimbra, sob a orientação de Pedro Lopes Ferreira e Sílvia Álvares.Enquadramento: O Síndrome de Marfan é o exemplo de uma doença genética ...
Silva, Rui Tavares da
core  

Homocistinuria clásica: Presentación de 1 caso

Revista Cubana de Medicina, 2002
Se presentó un paciente joven masculino que ingresó en el Centro Internacional de Restauración Neurológica por retraso mental ligero y epilepsia. Se evaluó minuciosamente y se encontró además, un hábito marfanoide caracterizado por dolicostenomelia ...
Liván Rodríguez Mutuberría, Reynaldo Galvizu Sánchez, Eduardo Álvarez González   +2 more
doaj  

18-month results of double-fanged 5-0 polypropylene suture transscleral bag fixation in subluxated cataracts. [PDF]

Arq Bras Oftalmol, 2023
Canabrava S, Rodrigues G, Halabi NN, Rezende AC, Cardoso M.   +4 more
europepmc   +1 more source

Pericardial Windows: The Limited Diagnostic Value of Non-Targeted Pericardial Biopsy. [PDF]

Arq Bras Cardiol, 2023
Giuliani GB, Morales IAA, Okaresnki G, Vieira GFNA, Durço DFPA, Rodrigues AJ.   +5 more
europepmc   +1 more source