Search Results - "Ceberio Hualde, L."
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Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: a multicentre prospective study of 1000 patients
Published in Annals of the rheumatic diseases (01-06-2015)“…To assess the prevalence of the main causes of morbi-mortality in the antiphospholipid syndrome (APS) during a 10-year-follow-up period and to compare the…”
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Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals
Published in Molecular genetics and metabolism reports (01-03-2017)“…Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in…”
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Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature
Published in Molecular genetics and metabolism (01-07-2018)“…Enzyme replacement therapy (ERT) has been shown to decrease urine glycosaminoglycans (uGAGs) and liver and spleen volumes, and to improve clinical symptoms in…”
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Analysis of the manifestations and treatment of tuberous sclerosis complex in the Basque Country
Published in European urology open science (Online) (01-07-2020)Get full text
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Treatment of encephalopathy by means of valproic acid with carglumic acid: two case reports and a review of the literature
Published in Revista de neurologiá (01-11-2017)“…Valproic acid (VPA) is a drug mainly used to treat epilepsy. Hyperammonaemic encephalopathy due to VPA is a rare but serious complication. The mechanism by…”
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Treatment of encephalopathy by means of valproic acid with carglumic acid. Reply
Published in Revista de neurologiá (16-02-2018)Get full text
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