Nikolas Boy

8PUBLICATIONS
78CO-AUTHORS
Child and adolescent developmentMedical biochemistry - amino acids and metabolitesInter-organisational, extra-organisational and global information systemsGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|Jul 18, 2025
Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis.

Chiara Milano, Ezgi Saylam, Claudia Papi

|Jan 02, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa).

Patrick Forny, Friederike Hörster, Matthias R Baumgartner

|Oct 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

Ulrike Mütze, Florian Gleich, Ivo Barić

|Oct 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Nikolas Boy, Chris Mühlhausen, Esther M Maier

|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

Dong Li, Qin Wang, Naihua N Gong

|Dec 04, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.

E M Charlotte Märtner, Esther M Maier, Katharina Mengler

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Frequent Collaborators

1 joint publications

Dong Li

1 joint publications

Naihua N Gong

1 joint publications

Alina Kurolap

1 joint publications

Hagit Baris Feldman