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Journal of Inherited Metabolic Disease|February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryFemke Molema, Florian Gleich, Peter Burgard, et al.Journal of Inherited Metabolic Disease|September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parametersNikolas Boy, Gisela Haege, Jana Heringer, et al.Orphanet Journal of Rare Diseases|June 22, 2011
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyMartin Lindner, Gwendolyn Gramer, Gisela Haege, et al.JIMD Reports|March 2, 2017
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of MetabolismNina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, et al.Annals of Neurology|October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.Molecular Genetics and Metabolism|April 24, 2012
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experienceStefan Kölker, S P Nikolas Boy, Jana Heringer, et al.Nutrients|December 15, 2018
Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation StudyHans Demmelmair, Anita MacDonald, Urania Kotzaeridou, et al.Pediatric Research|July 12, 2007
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in GermanyStefan Kölker, Sven F Garbade, Nikolas Boy, et al.Journal of Inherited Metabolic Disease|February 2, 2019
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuriaAndrea Pilotto, Nenad Blau, Edytha Leks, et al.Journal of Inherited Metabolic Disease|August 27, 2024
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screeningElena Schnabel-Besson, Sven F Garbade, Florian Gleich, et al.Pageof 8