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Open AccessCorrection to: PKU dietary handbook to accompany PKU guidelines
An amendment to this paper has been published and can be accessed via the original article.
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Open AccessPKU dietary handbook to accompany PKU guidelines
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
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Open AccessThe complete European guidelines on phenylketonuria: diagnosis and treatment
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreate...
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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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Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
The long-chain polyunsaturated fatty acids (LC-PUFA) status of children with PKU is often compromised. LC-PUFA, which are important fatty acids in the development of the CNS, can be synthesised endogenously fr...
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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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Prone Position and Sudden Infant Death: Are Progress Still Possible?
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Severe hypoxaemia induced by an intrapulmonary arterio-venous fistula: indication for nitric oxide
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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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Increased resting energy expenditure in glycogen storage disease type Ia
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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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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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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...