The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background
Bruinenberg, Vibeke M, van der Goot, Els, van Vliet, Danique, de Groot, Martijn J, Mazzola, Priscila N, Heiner-Fokkema, M Rebecca, van Faassen, Martijn, van Spronsen, Francjan J, van der Zee, Eddy A
Published in Frontiers in behavioral neuroscience (20.12.2016)
Published in Frontiers in behavioral neuroscience (20.12.2016)
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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
Yoon, Jihoon G., Lim, Seong-Kyun, Seo, Hoseok, Lee, Seungbok, Cho, Jaeso, Kim, Soo Yeon, Koh, Hyun Yong, Poduri, Annapurna H., Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, de Groot, Martijn J., Ko, Jung Min, Han, Dohyun, Chae, Jong-Hee, Lee, Chul-Hwan
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
de Groot, Martijn J., Hoeksma, Marieke, van Rijn, Margreet, Slart, Riemer H.J.A., van Spronsen, Francjan J.
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Journal Article
Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
de Groot, Martijn J, Hoeksma, Marieke, Reijngoud, Dirk-Jan, de Valk, Harold W, Paans, Anne M J, Sauer, Pieter J J, van Spronsen, Francjan J
Published in Orphanet journal of rare diseases (04.09.2013)
Published in Orphanet journal of rare diseases (04.09.2013)
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Single amino acid supplementation in aminoacidopathies: a systematic review
van Vliet, Danique, Derks, Terry G J, van Rijn, Margreet, de Groot, Martijn J, MacDonald, Anita, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Published in Orphanet journal of rare diseases (13.01.2014)
Published in Orphanet journal of rare diseases (13.01.2014)
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BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations
van Vliet, Danique, Anjema, Karen, Jahja, Rianne, de Groot, Martijn J., Liemburg, Geertje B., Heiner-Fokkema, M. Rebecca, van der Zee, Eddy A., Derks, Terry G.J., Kema, Ido P., van Spronsen, Francjan J.
Published in Molecular genetics and metabolism (01.01.2015)
Published in Molecular genetics and metabolism (01.01.2015)
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
de Groot, Martijn J., Cuppen, Marcel, Eling, Marc, Verheijen, Frans W., Rings, Edmond H. H. M., Reijngoud, Dirk-Jan, de Vries, Maaike M. C., van Spronsen, Francjan J.
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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