Manuel Lafuente-Hidalgo

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INTRODUCTION The aetiology and clinical features of peroxisomal diseases vary widely. An altered very-long-chain fatty acid (VLCFA) profile is commonly found in many of these diseases, and this makes it easier to point the diagnosis in the right direction. PATIENTS AND METHODS We review our experience in the diagnosis of cases of peroxisomal diseases with(More)
INTRODUCTION In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis. PATIENTS AND METHODS Here we analyse the(More)
INTRODUCTION Infection by cytomegalovirus (CMV) is the most frequent congenital viral infection. Although it offers a wide range of manifestations, it nevertheless continues to be underdiagnosed if there are no symptoms in the newborn infant, which is what most commonly happens. A definitive retrospective diagnosis can only be reached after the first three(More)
INTRODUCTION Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD We review our experience(More)
INTRODUCTION The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians. PATIENTS AND METHODS We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a(More)
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