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Nature Reviews Endocrinology, ISSN 1759-5029, 09/2010, Volume 6, Issue 9, pp. 509 - 514
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 9/2019, p. jmedgenet-2019-106278
Phenylketonuria (PKU) is a prototypical model of a neurodevelopmental metabolic disease that follows a cascade of pathological events affecting brain... 
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 08/2019
In phenylketonuria (PKU) patients, early diagnosis by neonatal screening and immediate institution of a phenylalanine-restricted diet can prevent severe... 
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S72 - S73
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2018, Volume 124, Issue 4, pp. 238 - 242
Objective: The objective of this study was to assess the long-term effects of BH4 treatment on anthropomorphic measurements and nutritional biomarkers in... 
Phenylketonuria | THERAPY | Diet | Nutrition | Tetrahydrobiopterin | Anthropomorphic measurements | TETRAHYDROBIOPTERIN BH4 | CHILDREN | AGE
Journal Article
Neurobiology of Learning and Memory, ISSN 1074-7427, 04/2019, Volume 160, p. 139
Toxic levels of phenylalanine in blood and brain is a characteristic of (untreated) phenylketonuria (PKU), leading to cognitive deficits in PKU mice. In... 
Immunohistochemistry | Sleep disorders | Phenylketonuria | Sleep | Phenylalanine | Analysis | Memory | Genetic research | Mice | Neurophysiology | Protein binding
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, pp. 641 - 646
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical... 
DIAGNOSIS | LEMLI-OPITZ-SYNDROME | DISEASE
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, p. 641
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene.... 
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2018, Volume 124, Issue 4, pp. 238 - 242
Objective: The objective of this study was to assess the long-term effects of BH treatment on anthropomorphic measurements and nutritional biomarkers in... 
Phenylketonuria | Diet | Nutrition | Anthropomorphic measurements | Tetrahydrobiopterin
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 09/2019, Volume 42, Issue 5, pp. 890 - 897
PURPOSE: To evaluate the Dutch newborn screening (NBS) for Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency since 2007. METHODS: A nationwide... 
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2019, Volume 42, Issue 5, pp. 890 - 897
To evaluate the Dutch newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency since 2007, a nationwide retrospective, observational... 
Journal Article
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