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Molecular Genetics and Metabolism Reports|June 27, 2017
Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?Carmen Rohde, Alena Gerlinde Thiele, Ulrike Och, et al.
Journal of Inherited Metabolic Disease|December 16, 2024
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countriesAnibh M Das, Diana Ballhausen, Dorothea Haas, et al.
Journal of Inherited Metabolic Disease|February 18, 2020
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendationsAlessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, et al.
Journal of Inherited Metabolic Disease|August 15, 2024
Health and well-being of maturing adults with classic galactosemiaOlivia S Garrett, Jared J Druss, E Naomi Vos, et al.
Molecular Genetics and Metabolism|October 2, 2012
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trialsClara D M van Karnebeek, Hans Hartmann, Sravan Jaggumantri, et al.
Nutrients|January 5, 2021
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical OutcomeFriederike Bärhold, Uta Meyer, Anne-Kathrin Neugebauer, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Orphanet Journal of Rare Diseases|August 2, 2014
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practiceSebene Mayorandan, Uta Meyer, Gülden Gokcay, et al.
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