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tyrosine/epileptisk anfald

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Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

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Phenylketonuria (PKU) is an autosomal recessive disorder caused by more than 500 pathogenic variants in the phenylalanine hydroxylase (PAH) gene. Due to these mutations, affected individuals have reduced activity or complete deficiency of the enzyme phenylalanine hydroxylase, which metabolizes the

Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.

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Phenylketonuria is rare genetic disease caused by mutation in gene of phenylalanine (Phe) hydroxylase that converts Phenylalanine into tyrosine. The absence of this enzyme leads to elevation and accumulation of Phenylalanine and, increased phenylketones in urine (hence PKU), and also leads to

Study of Anlotinib Plus Chemoradiotherapy in Patients With Locally Advanced NSCLC

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Lung cancer is the most common cancer, accounting for 20% of cancer-related deaths worldwide. In 2015, an estimated 610,200 patients (22 per cent of cancer-related deaths) died of lung cancer. Non-small cell lung cancer ((NSCLC)) accounts for 80% to 85% of lung cancer. Most patients are locally

Effect of Rosuvastatin on the Clinical Features of Preeclampsia

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Preeclampsia is a multisystem disorder that complicates 3-5% of pregnancies and remains a major cause of maternal, fetal, and neonatal morbidity and mortality.(1) Preeclampsia is characterized by the development of new onset hypertension (HTN) and the establishment of proteinuria. Other signs and

Detection of Epileptiform Activity in Severe Preeclampsia

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Preeclampsia constitutes a heterogeneous multisystemic disorder defined by the new onset of hypertension and proteinuria after 20 weeks of gestation.1 The incidence of preeclampsia in Switzerland is estimated at 2.31 % of pregnancies (95% CI 1.62-3.28%), about 1'911 cases/year can be expected to

Esomeprazole in Treatment of Early Onset Preeclampsia (ESOPE Trial)

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The key aspects in the pathophysiology of pre-eclampsia are placental oxidative stress (and hypoxia), placental release of the anti-angiogenic factors Soluble Fms Like Tyrosine Kinase -1 and soluble endoglin and maternal endothelial dysfunction. A drug that can counter these pathological steps could

Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in tuberous sclerosis complex 1 (TSC1) or TSC2 tumor suppressor genes. TSC is characterized by tumors in a wide range of tissues, seizures, mental retardation, autism, and organ failure. Lymphangioleiomyomatosis

Rosuvastatin in Order to Induce Preeclampsia Resolution in Severe PET up to 48 Hours Following Delivery

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Preeclampsia is a disorder of widespread vascular endothelial malfunction and vasospasm that occurs after 20 weeks' gestation and can present as late as 4-6 weeks' postpartum. It is clinically defined by as blood pressure ≥140 mmHg systolic and ≥90 mmHg diastolic diagnosed for the first time after

Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency

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Within 4 weeks of completing screening assessments to determine eligibility, subjects will be enrolled in the study. The study will be conducted in two parts. Part 1: After screening, all subjects will be followed for two weeks without modification of their baseline medical or dietary care. Part 2:

Erythropoietin Therapy for Subarachnoid Hemorrhage

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BACKGROUND: 1. Delayed ischaemia deficits in subarachnoid haemorrhage Seven thousand patients suffer SAH each year within the UK with young adults (<55 years) being equally affected. Cerebral vasospasm and related cerebral ischemia are the major causes of delayed morbidity and mortality in patients
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