Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses

por Mathis, Déborah, Sass, Jörn Oliver, Graubner, Claudia, Schoster, Angelika
Publicado 2021

ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

por Christen, Matthias, Bongers, Jos, Mathis, Déborah, Jagannathan, Vidhya, Quintana, Rodrigo Gutierrez, Leeb, Tosso
Publicado 2022

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

por Lucienne, Marie, Mathis, Déborah, Perkins, Nathan, Fingerhut, Ralph, Baumgartner, Matthias R., Froese, D. Sean
Publicado 2020

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

por Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.
Publicado 2022

Validation of a Food Frequency Questionnaire to Assess Intake of n-3 Polyunsaturated Fatty Acids in Switzerland

por Herter-Aeberli, Isabelle, Graf, Celeste, Vollenweider, Anna, Häberling, Isabelle, Srikanthan, Pakeerathan, Hersberger, Martin, Berger, Gregor, Mathis, Déborah
Publicado 2019

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

por Crowther, Lisa M., Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara
Publicado 2022

Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin defi...

por Boehm, Thomas, Hubmann, Holger, Petroczi, Karin, Mathis, Déborah, Klavins, Kristaps, Fauler, Guenter, Plecko, Barbara, Struys, Eduard, Jilma, Bernd
Publicado 2020