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The complete European guidelines on phenylketonuria: diagnosis and treatment

Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.162-162, Article 162

2017

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PKU dietary handbook to accompany PKU guidelines

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.171-171, Article 171

2020

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Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.46-51

2009

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Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.44-44, Article 44

2019

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Patient's thoughts and expectations about centres of expertise for PKU

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.2-2, Article 2

2021

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Correction to: PKU dietary handbook to accompany PKU guidelines

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.1-230, Article 230

2020

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Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria

Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.49-55

2021

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truth of treating patients with phenylketonuria after childhood: The need for a new guideline

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.673-679

2008

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Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.121-121, Article 121

2016

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Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations

Neuropsychologia, 2002, Vol.40 (1), p.7-15

2002

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Behavioural factors related to metabolic control in patients with phenylketonuria

Journal of inherited metabolic disease, 2005-09, Vol.28 (5), p.627-637

2005

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Renal function in tyrosinaemia type I after liver transplantation: A long‐term follow‐up

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.871-876

2005

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Pilot use of the early motor repertoire in infants with inborn errors of metabolism: Outcomes in early and middle childhood

Early human development, 2009-07, Vol.85 (7), p.461-465

2009

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PKU—What is daily practice in various centres in Europe?: Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.58-64

2009

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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.845-854

2005

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Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

Molecular genetics and metabolism, 2010, Vol.99, p.S86-S89

2010

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The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.624-635

2024

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The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations

Molecular genetics and metabolism, 2022-01, Vol.135 (1), p.27-34

2022

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Motor Function Under Lower and Higher Controlled Processing Demands in Early and Continuously Treated Phenylketonuria

Neuropsychology, 2003-07, Vol.17 (3), p.369-379

2003

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The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.29-34

2007

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Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism

Journal of inherited metabolic disease, 2023-11, Vol.46 (6), p.1017-1028

2023

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High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Clinical nutrition (Edinburgh, Scotland), 2021-05, Vol.40 (5), p.3622-3630

2021

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Maleic acid is a biomarker for Maleylacetoacetate isomerase deficiency; implications for newborn screening of Tyrosinemia type 1

Journal of inherited metabolic disease, 2023-11, Vol.46 (6), p.1104-1113

2023

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Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.27-31

2009

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Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

Psychological medicine, 2017-12, Vol.47 (16), p.2854-2865

2017

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The complete European guidelines on phenylketonuria: diagnosis and treatment

PKU dietary handbook to accompany PKU guidelines

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

Patient's thoughts and expectations about centres of expertise for PKU

Correction to: PKU dietary handbook to accompany PKU guidelines

Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria

truth of treating patients with phenylketonuria after childhood: The need for a new guideline

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations

Behavioural factors related to metabolic control in patients with phenylketonuria

Renal function in tyrosinaemia type I after liver transplantation: A long‐term follow‐up

Pilot use of the early motor repertoire in infants with inborn errors of metabolism: Outcomes in early and middle childhood

PKU—What is daily practice in various centres in Europe?: Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations

Motor Function Under Lower and Higher Controlled Processing Demands in Early and Continuously Treated Phenylketonuria

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Maleic acid is a biomarker for Maleylacetoacetate isomerase deficiency; implications for newborn screening of Tyrosinemia type 1

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria

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