14 Result(s)

Article

Congenital pulmonary steal associated with Tetralogy of Fallot, right aortic arch and an isolated left carotid artery

R. Tozzi, M. Hernanz-Schulman, R. Kiley, N. Genieser, M. Ambrosino… in Pediatric Radiology (1989)

Article

Identification of GM2-gangliosidosis B1 variant carriers

GM2-gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method fo...

M. G. Ribeiro, R. Pinto, P. Oliveira… in Journal of Inherited Metabolic Disease (1993)

Article

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: Linkage to the PvuII polymorphism

The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previously that this mutation is linked to the Pv1.1⁻ form of the PvuII polym...

L. Lacerda, O. Amaral, R. Pinto, J. Aerts… in Journal of Inherited Metabolic Disease (1994)

Article

Patellar tendon avulsion after reconstruction of the anterior cruciate ligament

We report a case of rupture of a reconstructed anterior cruciate ligament (ACL) combined with avulsion of the inferior patellar ligament. The two lesions were repaired during one operation using the quadricep...

A. Sousa, R. Matos, V. Veludo, D. Pedroso, R. Pinto… in International Orthopaedics (2002)

Article

Epithelioid hemangioendothelioma and multiple thoraco-lumbar lateral meningoceles: two rare pathological entities in a patient with NF-1

Epithelioid hemangioendothelioma (EHE) is a rare vascular soft-tissue tumour of intermediate malignancy. Neurofibromatosis type I (NF-1) is a genetic syndrome associated with soft tissue sarcoma and higher ris...

C. Reis, E. Carneiro, J. Fonseca, P. Pereira, R. Vaz, R. Pinto… in Neuroradiology (2005)

Article

Rhabdomyolysis: risk factors and incidence in polytrauma patients in the absence of major disasters

Rhabdomyolysis is a syndrome caused by musculoskeletal tissue damage that leads to the release of large amounts of intracellular elements, which particularly affect renal function. The most common causes are s...

A. Sousa, J. A. Paiva, S. Fonseca, F. Raposo… in European Journal of Trauma and Emergency S… (2013)

Article

Nivolumab before and after allogeneic hematopoietic cell transplantation

F Covut, R Pinto, B W Cooper, B Tomlinson, L Metheny… in Bone Marrow Transplantation (2017)