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Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

• S. Adam, M F Almeida, +40 authors Hans Zweers
• Molecular genetics and metabolism
• 2013

BACKGROUND Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice. AIM A comparison of dietetic… (More)

Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage

• Monique Albersen, Marjolein Bonthuis, +6 authors Gepke Visser
• Journal of Inherited Metabolic Disease
• 2010

Phenylketonuria (PKU) causes irreversible central nervous system damage unless a phenylalanine (PHE) restricted diet with amino acid supplementation is maintained. To prevent growth retardation, a… (More)

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration.

• Karen Anjema, Garard Venema, +16 authors Francjan J. van Spronsen
• Molecular genetics and metabolism
• 2011

BACKGROUND The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 μmol/l is commonly used to test phenylketonuria patients… (More)

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