Bernd C Schwahn

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 4

Top Venues

Journal of inherited metabolic disease

JIMD reports

This page only lists publications with an associated author ORCID identifier.

Publications

Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of inherited metabolic disease 47 (4) (2024)
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of inherited metabolic disease (2024)
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies. Journal of inherited metabolic disease 47 (4) (2024)
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean-Francois Benoist, Bruce A Barshop, Jaime J Barea, Annette Feigenbaum
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. JIMD reports 52 (1) (2020)

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Publication Activity (10 Years)

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Bernd C Schwahn