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Pediatrics|November 2, 2017
Growth and Final Height Among Children With PhenylketonuriaAlena G Thiele, Ruth Gausche, Cornelia Lindenberg, et al.The American Journal of Clinical Nutrition|March 10, 2005
Status of plasma folate after folic acid fortification of the food supply in pregnant African American women and the influences of diet, smoking, and alcohol consumptionKen D Stark, Robert J Pawlosky, Skadi Beblo, et al.Orphanet Journal of Rare Diseases|January 31, 2026
Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseasesJohannes Boettcher, Thomas Lücke, Holger Zapf, et al.Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.Annals of Neurology|September 30, 2004
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 geneMarieke J H Coenen, Lambert P van den Heuvel, Cristina Ugalde, et al.Investigative Radiology|February 2, 2026
MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation DisordersFabian Preisner, Sven F Garbade, Sarah C Grünert, et al.Orphanet Journal of Rare Diseases|November 19, 2021
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancyCarmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, et al.Annals of Neurology|April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1Nikolas Boy, Katharina Mengler, Eva Thimm, et al.Journal of Inherited Metabolic Disease|July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatmentUlrike Mütze, Lucy Henze, Julian Schröter, et al.Scientific Reports|September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyE M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.Pageof 6