Nikolas Boy
Maulbronn, BW, Germany
Last Updated: 09/26/2026
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Found 35 publications
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.
Journal: Journal of inherited metabolic disease
Published: October 13, 2025
Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: July 18, 2025
Glutaric aciduria type 1 - a rare treatable neurometabolic disorder of lysine metabolism
Journal: MMW Fortschritte der Medizin
Published: February 19, 2025
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.
Journal: International journal of neonatal screening
Published: October 11, 2024
Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130].
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 01, 2024
Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 04, 2023
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
Journal: Journal of inherited metabolic disease
Published: January 31, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa).
Journal: Journal of inherited metabolic disease
Published: October 10, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
Journal: Journal of inherited metabolic disease
Published: August 17, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Journal: Journal of inherited metabolic disease
Published: July 19, 2022
How longitudinal observational studies can guide screening strategy for rare diseases.
Journal: Journal of inherited metabolic disease
Published: February 12, 2022
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Journal: Scientific reports
Published: October 13, 2021
Last Updated: 09/26/2026