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European Journal of Human Genetics : EJHG|May 9, 2013
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion DocumentMartina C Cornel, Tessel Rigter, Stephanie S Weinreich, et al.Pediatric Rheumatology Online Journal|February 23, 2024
Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disordersDaniela Choukair, Christian Patry, Ronny Lehmann, et al.Pediatric Research|June 29, 2007
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)Friederike Hörster, Matthias R Baumgartner, Caroline Viardot, et al.Metabolites|October 22, 2021
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This ObservationDorothea Haas, Jana Hauke, Kathrin V Schwarz, et al.Journal of Inherited Metabolic Disease|August 28, 2015
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disordersDagmar Jamiolkowski, Stefan Kölker, Esther M Glahn, et al.Orphanet Journal of Rare Diseases|November 13, 2021
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint CommitteeDaniela Choukair, Fabian Hauck, Markus Bettendorf, et al.Molecular Genetics and Metabolism|December 11, 2012
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypothesesGwendolyn Gramer, Birgit Förl, Christina Springer, et al.Journal of Inherited Metabolic Disease|May 1, 2012
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurancePeter Burgard, Kathrin Rupp, Martin Lindner, et al.Molecular Genetics and Metabolism|March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentFemke Molema, Florian Gleich, Peter Burgard, et al.Clinical Chemistry|April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.Pageof 8