Mathis D - Search Results

1

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B. Abela L, et al. Among authors: mathis d. J Inherit Metab Dis. 2016 Jan;39(1):131-7. doi: 10.1007/s10545-015-9876-y. Epub 2015 Jul 15. J Inherit Metab Dis. 2016. PMID: 26174906 Free article.

2

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Mathis D, Abela L, Albersen M, Bürer C, Crowther L, Beese K, Hartmann H, Bok LA, Struys E, Papuc SM, Rauch A, Hersberger M, Verhoeven-Duif NM, Plecko B. Mathis D, et al. J Inherit Metab Dis. 2016 Sep;39(5):733-741. doi: 10.1007/s10545-016-9955-8. Epub 2016 Jun 24. J Inherit Metab Dis. 2016. PMID: 27342130

3

Confirmation of mutations in PROSC as a novel cause of vitamin B _₆ -dependent epilepsy.

Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A. Plecko B, et al. Among authors: mathis d. J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8. J Med Genet. 2017. PMID: 28391250

4

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.

Srinivasaraghavan R, Parameswaran N, Mathis D, Bürer C, Plecko B. Srinivasaraghavan R, et al. Among authors: mathis d. Neuropediatrics. 2018 Apr;49(2):154-157. doi: 10.1055/s-0037-1621721. Epub 2018 Feb 5. Neuropediatrics. 2018. PMID: 29401530

5

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

Crowther LM, Mathis D, Poms M, Plecko B. Crowther LM, et al. Among authors: mathis d. J Inherit Metab Dis. 2019 Jul;42(4):620-628. doi: 10.1002/jimd.12076. Epub 2019 Apr 15. J Inherit Metab Dis. 2019. PMID: 30767241 Free article.

6

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.

Boehm T, Hubmann H, Petroczi K, Mathis D, Klavins K, Fauler G, Plecko B, Struys E, Jilma B. Boehm T, et al. Among authors: mathis d. J Inherit Metab Dis. 2020 Jul;43(4):891-900. doi: 10.1002/jimd.12214. Epub 2020 Jan 29. J Inherit Metab Dis. 2020. PMID: 31930735 Free PMC article.

7

LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.

Mathis D, Beese K, Rüegg C, Plecko B, Hersberger M. Mathis D, et al. J Inherit Metab Dis. 2020 Sep;43(5):1102-1111. doi: 10.1002/jimd.12244. Epub 2020 May 16. J Inherit Metab Dis. 2020. PMID: 32319100

8

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

Crowther LM, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, Mathis D, Plecko B. Crowther LM, et al. Among authors: mathis d. J Inherit Metab Dis. 2023 Jan;46(1):129-142. doi: 10.1002/jimd.12569. Epub 2022 Oct 27. J Inherit Metab Dis. 2023. PMID: 36225138 Free PMC article.

9

Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.

Urzì C, Meyer C, Mathis D, Vermathen P, Nuoffer JM. Urzì C, et al. Among authors: mathis d. J Inherit Metab Dis. 2025 Jan;48(1):e12794. doi: 10.1002/jimd.12794. Epub 2024 Sep 4. J Inherit Metab Dis. 2025. PMID: 39233469 Free PMC article.

10

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Ramosaj A, Borsuk M, Underhaug J, Mathis D, Matsumoto S, Keogh A, Banz V, Pandey AV, Gougeard N, Rubio V, Martinez A, Allegri G, Poms M, Thöny B, Häberle J, Laemmle A. Ramosaj A, et al. Among authors: mathis d. J Inherit Metab Dis. 2025 May;48(3):e70043. doi: 10.1002/jimd.70043. J Inherit Metab Dis. 2025. PMID: 40421674 Free PMC article.

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