Phenylketonuria

14 min read / / 2 Issues / 68 Volumes
Growth & Development

Since the discovery of the metabolic disease phenylketonuria (PKU) 76 years ago a fundamental understanding of the disease has been achieved...

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Since the discovery of the metabolic disease phenylketonuria (PKU) 76 years ago a fundamental understanding of the disease has been achieved. General neonatal mass screening is established around the globe nowadays. This issue of the Annales gives an overview of today’s techniques and methods for the diagnosis and treatment modalities of PKU.

Articles

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Screening for Phenylketonuria

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Neuropsychological Functioning in Early-Treated Phenylketonuria - A Review

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Nutritional Management of Phenylketonuria

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Novel Approaches to the Therapy of Phenylketonuria

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Molecular Basis of Phenylketonuria: From Genotype to Clinical Management

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