6 Result(s)
within
F. Feillet
Human Genetics
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Article
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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Article
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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Article
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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Article
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
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
