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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 4 of 4 1 X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES ... Furlan, Fernanda Luiza Schumacher; Macleise Andres Lemes; Suguimatsu, Ligia Cecilia Fuverki. - : SciELO journals, 2019 BASE Show details 2 X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES ... Furlan, Fernanda Luiza Schumacher; Macleise Andres Lemes; Suguimatsu, Ligia Cecilia Fuverki. - : SciELO journals, 2019 BASE Show details 3 X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES ... Furlan, Fernanda Luiza Schumacher; Macleise Andres Lemes; Suguimatsu, Ligia Cecilia Fuverki. - : SciELO journals, 2019 BASE Show details 4 X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES ... Furlan, Fernanda Luiza Schumacher; Macleise Andres Lemes; Suguimatsu, Ligia Cecilia Fuverki; Pires, Carolina Teixeira Furquim; Santos, Mara Lucia Schmitz Ferreira. - : SciELO journals, 2019 Abstract: ABSTRACT Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related to epidemiology, phenotype, diagnosis and treatment of 24 patients with X-linked adrenoleukodystrophy were collected. A qualitative cross-sectional and descriptive-exploratory analysis was performed using medical records from a reference center in Neuropediatrics in Curitiba, Brazil, as well as an electronic questionnaire. Results: The majority (79%) of patients had cerebral demyelinating inflammatory adrenoleukodystrophy, presenting aphasia, hyperactivity and vision disorders as the main initial symptoms. These symptoms appeared, on average, between six and seven years of age. There was a mean delay of 11 months between the onset of symptoms/signs and the diagnosis. Patients sought diagnosis mainly with neuropediatricians, and the main requested tests ... Keyword: 111403 Paediatrics; FOS Clinical medicine URL: https://dx.doi.org/10.6084/m9.figshare.9985775.v1 https://scielo.figshare.com/articles/X-LINKED_ADRENOLEUKODYSTROPHY_IN_BRAZIL_A_CASE_SERIES/9985775/1 BASE Hide details

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