Medicina clinica
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Multicenter Study
[Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units].
To evaluate the management of phenylketonuria (PKU) in Spanish metabolic units and to develop a patients registry. ⋯ This study allows for the first time the evaluation of the PKU management by Spanish PKU Follow-up Units, as well as the analysis and registry of controlled PKU patients. The study makes evident the need of adult Follow-up Units and the importance of neonatal screening for PKU patients prognosis.
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Laminopathies are a group of diseases that share wrong codification of lamins, building proteins of the nuclear lamina. Different tissues are affected in those disorders: striated muscle, adipose tissue, central or peripheral nervous system and aging process. ⋯ The last decade has seen an increasing interest and scientific advances on laminopathies that will allow us to answer key questions regarding metabolism, insulin resistance, sudden death and aging. Laminopathies are reviewed in this article from a molecular, pathogenic and clinical point of view.