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Juvenile Pompe Disease: Retrospective Clinical Study

Loureiro Neves, Filipa; Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.

Introduction: Pompe disease or glycogen storage disease type II is an autosomal recessive disorder due to acid maltase deficiency. It is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population. There are three forms of clinical presentation (infantile-onset, childhood-onset and adult-onset), although the disease presents as a continuum ...

Data: 2013   |   Origem: Acta Médica Portuguesa

Adolescents in Santo André Hospital: health needs.

Madureira, Núria; Santos, Raquel; Moleiro, Pascoal

In the context of the National Health Youth Program, Department of Pediatrics of Santo André Hospital (SAH) has as one of its objectives to extend its age limit up to 18 years of age.To evaluate adolescents' health needs followed up at SAH and to determine the impact of the proposed new age limit policy.Retrospective descriptive study that included adolescents (10-18 years old) seen at the emergency department ...

Data: 2009   |   Origem: Acta Médica Portuguesa

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Fundação para a Ciência e a Tecnologia Universidade do Minho   Governo Português Ministério da Educação e Ciência Programa Operacional da Sociedade do Conhecimento União Europeia