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Author/Creator Mathis, Déborah

1. Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency. Issue 4 (29th January 2020)

Authors:
Boehm, Thomas; Hubmann, Holger; Petroczi, Karin; Mathis, Déborah; Klavins, Kristaps; Fauler, Guenter; Plecko, Barbara; Struys, Eduard; Jilma, Bernd
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
891
Record Type:
Journal Article
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4. Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy. Issue 1 (27th October 2022)

Authors:
Crowther, Lisa M.; Poms, Martin; Zandl‐Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 1(2023)
Page Start:
129
Record Type:
Journal Article
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5. N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics. Issue 1 (15th July 2015)

Authors:
Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M.; Mathis, Déborah; Rauch, Anita; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
131
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases. Issue 5 (23rd May 2022)

Authors:
Mathis, Déborah; Croft, Joanne; Chrastina, Petr; Fowler, Brian; Vianey‐Saban, Christine; Ruijter, George J. G.
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
926
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Issue 5 (24th June 2016)

Authors:
Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A.; Struys, Eduard; Papuc, Sorina M.; Rauch, Anita; Hersberger, Martin; Verhoeven‐Duif, Nanda M.; Plecko, Barbara
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
733
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗