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The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
This study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6R-tetrahydrobiopterin or 6R-BH4) 10 mg/kg per day in patients with phenylketonuria (PKU), who have eleva...
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Article
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.
We report the case of a 33-year-old man who presented with headaches and vomiting. Soon after admission he became drowsy and agitated, developed ventricular tachycardia and his neurological state worsened (Gla...
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Article
Prone Position and Sudden Infant Death: Are Progress Still Possible?
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Article
Severe hypoxaemia induced by an intrapulmonary arterio-venous fistula: indication for nitric oxide
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Article
Effect of pancreatin on uncooked cornstarch absorption in patients with glycogen storage disease type Ia (GSD-Ia)
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Alternative pathway therapy for urea cycle disorders
In man the major pathway for the disposal of waste nitrogen is the urea cycle; in inborn errors of this pathway, nitrogen flux is reduced. As a result there is accumulation of ammonia and glutamine with disord...
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Article
Increased resting energy expenditure in glycogen storage disease type Ia
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Article
Gastro-oesophageal reflux (GER) and ALTE in babies: Role of Beta Endorphins?
GER is frequently observed during the first months of life and is now considered as a significant risk factor for ALTE or SIDS. To evaluate the potential role of Beta endorphins in the pathogenesis of ALTE in ...
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Article
EFFECT OF SYMPATHETIC INNERVATION ON CEREBRAL BLOOD FLOW AUTOREGULATION IN THE NEWBORN PIGLET
To evaluate the role of the sympathetic nervous system (SNS) in cerebral blood flow autoregulation (CBF-AR) in the neonatal period, CBF was measured (microspheres) at different levels of mean arterial blood pr...
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Article
Phenobarbital (PB) restores cerebral blood flow (CBF) autoregulation after seizures(S) in the newborn Piglet
CBF autoregulation is impaired after experimental S in the neonatal period; to analyse the effect of PB on this phenomenon, CBF is measured (microspheres) in the postictal period in 3 groups of newborn piglets...