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N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. [electronic resource] by
- 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
Producer: 20161017
In:
Journal of inherited metabolic disease vol. 39
Availability: No items available.
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16.
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. [electronic resource] by
- 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
Producer: 20171206
In:
Journal of inherited metabolic disease vol. 39
Availability: No items available.
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17.
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Confirmation of mutations in [electronic resource] by
- Plecko, Barbara
- Zweier, Markus
- Begemann, Anaïs
- Mathis, Deborah
- Schmitt, Bernhard
- Striano, Pasquale
- Baethmann, Martina
- Vari, Maria Stella
- Beccaria, Francesca
- Zara, Federico
- Crowther, Lisa M
- Joset, Pascal
- Sticht, Heinrich
- Papuc, Sorina Mihaela
- Rauch, Anita
Producer: 20180703
In:
Journal of medical genetics vol. 54
Availability: No items available.
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18.
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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. [electronic resource] by
- Forny, Patrick
- Schumann, Anke
- Mustedanagic, Merima
- Mathis, Déborah
- Wulf, Marie-Angela
- Nägele, Nadine
- Langhans, Claus-Dieter
- Zhakupova, Assem
- Heeren, Joerg
- Scheja, Ludger
- Fingerhut, Ralph
- Peters, Heidi L
- Hornemann, Thorsten
- Thony, Beat
- Kölker, Stefan
- Burda, Patricie
- Froese, D Sean
- Devuyst, Olivier
- Baumgartner, Matthias R
Producer: 20170519
In:
The Journal of biological chemistry vol. 291
Availability: No items available.
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19.
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In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. [electronic resource] by
- Lucienne, Marie
- Aguilar-Pimentel, Juan Antonio
- Amarie, Oana V
- Becker, Lore
- Calzada-Wack, Julia
- da Silva-Buttkus, Patricia
- Garrett, Lillian
- Hölter, Sabine M
- Mayer-Kuckuk, Philipp
- Rathkolb, Birgit
- Rozman, Jan
- Spielmann, Nadine
- Treise, Irina
- Busch, Dirk H
- Klopstock, Thomas
- Schmidt-Weber, Carsten
- Wolf, Eckhard
- Wurst, Wolfgang
- Forny, Merima
- Mathis, Déborah
- Fingerhut, Ralph
- Froese, D Sean
- Gailus-Durner, Valerie
- Fuchs, Helmut
- de Angelis, Martin Hrabě
- Baumgartner, Matthias R
Producer: 20200803
In:
Biochimica et biophysica acta. Molecular basis of disease vol. 1866
Availability: No items available.
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