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Molecular Genetics and Metabolism|February 4, 2010
Psychosocial issues and outcomes in maternal PKURichard Koch, Friedrich Trefz, Susan Waisbren
Molecular Genetics and Metabolism|September 24, 2013
Is overweight an issue in phenylketonuria?Júlio C Rocha, Anita MacDonald, Friedrich Trefz
Human Mutation|December 3, 2009
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseasesThoralf Töpel, Dagmar Scheible, Friedrich Trefz, et al.
Applied Bioinformatics|May 26, 2006
RAMEDIS: the rare metabolic diseases databaseThoralf Töpel, Ralf Hofestädt, Dagmar Scheible, et al.
In Silico Biology|January 25, 2003
Supporting genotype-phenotype correlation with the rare metabolic diseases database RamedisThoralf Töpel, Uwe Scholz, Ulrike Mischke, et al.
Annals of Neurology|March 14, 2002
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutationMarkus Schuelke, Heiko Krude, Barbara Finckh, et al.
Molecular Genetics and Metabolism|March 2, 2015
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modelingFriedrich Trefz, Olaf Lichtenberger, Nenad Blau, et al.
Orphanet Journal of Rare Diseases|April 2, 2025
The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risksYann Dos Santos, Friedrich Trefz, Maria Giżewska, et al.
The Journal of Pediatrics|September 2, 2021
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International SurveyAnnemiek M J van Wegberg, Friedrich Trefz, Maria Gizewska, et al.
Pediatrics|December 5, 2003
Research design, organization, and sample characteristics of the Maternal PKU Collaborative StudyRichard Koch, Colleen Azen, Eva Friedman, et al.
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