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Kuseyri Hübschmann, Oya: Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines / Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Roser Pons, … , 20 September 2021. - 13 S.
In: Nature Communications, ISSN 2041-1723. 12(2021), Artikel-ID 5529, Seite 1-13
DOI: 10.1038/s41467-021-25515-5
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Keller, Mareike: Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry / Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia P… , November 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6 vom: Nov., Seite 1489-1502
DOI: 10.1002/jimd.12416
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Kuseyri Hübschmann, Oya: Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients / Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, Filippo Manti, Gabriella Horvath, Elisend… , July 2021. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: Juli, Seite 1070-1082
DOI: 10.1002/jimd.12360
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Julià-Palacios, Natalia: The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency / Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Hor… , May 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 3 vom: Mai, Seite 447-462
DOI: 10.1002/jimd.12723
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Opladen, Thomas: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 26 May 2020. - 30 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 126, Seite 1-30
DOI: 10.1186/s13023-020-01379-8
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Opladen, Thomas: Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Y… , 05 August 2020. - 5 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 202, Seite 1-5
DOI: 10.1186/s13023-020-01464-y
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Kuseyri Hübschmann, Oya: Integrative approach to predict severity in nonketotic hyperglycinemia / Oya Kuseyri Hübschmann, MD, Natalia Alexandra Juliá-Palacios, MD, Mireia Olivella, PhD, Philipp Gude… , August 2022. - 12 S. : Illustrationen
In: Annals of neurology, ISSN 1531-8249. 92(2022), 2 vom: Aug., Seite 292-303
DOI: 10.1002/ana.26423
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| 8. |
Hoffmann, Georg F.: Abnormalities of tetrahydrobiopterin metabolism / authors Georg F Hoffmann MD, Oya Kuseyri Hübschmann MD, 05.30.2023
In: MedLink neurology, ISSN 2831-9125. (2023), Seite ?
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| 9. |
Himmelreich, Nastassja: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , July 2023. - 15 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 3 vom: Juli, Artikel-ID 107624, Seite 1-15
DOI: 10.1016/j.ymgme.2023.107624
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| 10. |
Himmelreich, Nastassja: Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes / Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel, Malak Ali Alghamdi, Yair Anikster, Xinhua… , 7 July 2023. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 139(2023), 4, Artikel-ID 107647, Seite 1-5
DOI: 10.1016/j.ymgme.2023.107647
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| 11. |
Deininger, Luca: An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids / Luca Deininger, Sabine Jung-Klawitter, Ralf Mikut, Petra Richter, Manuel Fischer, Kianush Karimian-J… , 01 December 2023. - 9 S. : Illustrationen
In: Scientific reports, ISSN 2045-2322. 13(2023), Artikel-ID 21231, Seite 1-9
DOI: 10.1038/s41598-023-48343-7
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| 12. |
Opladen, Thomas: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec / Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Debora Call, Kim Green, Ulrike Schara, W… , 29 June 2021. - 10 S.
In: Monatsschrift Kinderheilkunde, ISSN 1433-0474. 169(2021), 8, Seite 738-747
DOI: 10.1007/s00112-021-01232-7
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| 13. |
Roubertie, Agathe: Gene therapy for aromatic L-amino acid decarboxylase deficiency : requirements for safe application and knowledge-generating follow-up / Agathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Lisa Flint, Michel A. … , 04 July 2023. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-13
DOI: 10.1002/jimd.12649
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| 14. |
Alfonsi, Chiara: Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders / Chiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, Natalia Juliá Palacios, Inés P… , 04 June 2022. - 12 S. : Illustrationen
In: Neuroradiology, ISSN 1432-1920. 64(2022), 11, Seite 2179-2190
DOI: 10.1007/s00234-022-02989-8
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| 15. |
Kuseyri Hübschmann, Oya: Dopamine beta-hydroxylase deficiency / expert reviewer(s): Dr Oya Kuseyri Hübschmann - Pr Thomas Opladen - Dr Tessa Wassenberg, May 2021
In: Orphanet. (2021), Seite ?
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| 16. |
Opladen, Thomas: The International Working Group on Neurotransmitter related Disorders (iNTD) : a worldwide research project focused on primary and secondary neurotransmitter disorders / Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Edua… , 20 October 2016. - 6 S.
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 9(2016), Seite 61-66
DOI: 10.1016/j.ymgmr.2016.09.006
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| 17. |
Jung-Klawitter, Sabine: Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism : from past to future / Sabine Jung-Klawitter and Oya Kuseyri Hübschmann, 9 August 2019. - 45 S.
In: Cells, ISSN 2073-4409. 8(2019,8) Artikel-Nummer 867, 45 Seiten
DOI: 10.3390/cells8080867
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| 18. |
Kuseyri Hübschmann, Oya: Aromatic L-amino acid decarboxylase deficiency / expert reviewer(s): Dr Oya Kuseyri Hübschmann - Pr Thomas Opladen, July 2020
In: Orphanet. (2020), Seite ?
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| 19. |
Brennenstuhl, Heiko: Succinic semialdehyde dehydrogenase deficiency : in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 / Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine … , 13 November 2020. - 15 Seiten
In: International journal of molecular sciences, ISSN 1422-0067. 21(2020), 22, Artikel-ID 8578, Seite 1-15
DOI: 10.3390/ijms21228578
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| 20. |
Kuseyri Hübschmann, Oya: Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders / O. Kuseyri, A. Weissbach, N. Bruggemann, C. Klein, M. Giżewska, D. Karall, S. Scholl‐Bürgi, H. Roman… , 28 March 2018. - 15 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 5, Seite 849-863
DOI: 10.1007/s10545-018-0169-0
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