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Síndrome com envolvimento neuromuscular caracterizada por hipotonia infantil, hipoplasia muscular, paraparesia espástica com movimentos distônicos/atetóicos e deficiência cognitiva grave.
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Correction: Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions.
The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis.
📖 RevisãoThe prevalence and long-term response to calcium channel blockers in patients with pulmonary arterial hypertension and positive vasoreactivity test - results of multicenter national registry (BNP-PL).
Management of pregnancy, delivery and breast-feeding in hereditary angioedema: an analysis of 15 pregnancies with conventional treatment approaches and a case of Lanadelumab use.
Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory.