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European Journal of Human Genetics : EJHG|October 25, 2021
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disordersJulia Klau, Rami Abou Jamra, Maximilian Radtke, et al.Journal of Inherited Metabolic Disease|February 10, 2011
Transition of young adults with phenylketonuria from pediatric to adult careUlrike Mütze, Annika Roth, Johannes F W Weigel, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 16, 2013
Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemiaManuela Siekmeyer, Stefanie Petzold-Quinque, Friederike Terpe, et al.Children (Basel, Switzerland)|December 23, 2023
Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of MetabolismTanjana Harings, Martina Patrizia Neininger, Simone Eisenhofer, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 20, 2010
Addison's disease and severe encephalopathy in an infant with HIV infectionSkadi Beblo, Johannes Allmendinger, Roland Pfäffle, et al.Orphanet Journal of Rare Diseases|August 26, 2024
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency managementTanjana Harings, Martina P Neininger, Simone Eisenhofer, et al.Molecular Genetics and Metabolism Reports|December 13, 2016
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findingsUlrike Mütze, Friederike Bürger, Jessica Hoffmann, et al.Molecular Genetics and Metabolism Reports|March 4, 2016
The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supplyAlena G Thiele, Carmen Rohde, Ulrike Mütze, et al.Clinical Oral Investigations|February 22, 2023
Dietary and metabolic effects on the oral status of patients with phenylketonuria: a nation-based cross-sectional studyAnne Carolin Bingöl, Memduh Bingöl, Nikolaos Pandis, et al.Neurology. Genetics|November 29, 2024
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case ReportTobias Bachmann, Helene Faust, Rami Abou Jamra, et al.Pageof 6