@article{UBHD-69108008, author={Alfonsi, Chiara and Stephan-Otto, Christian and Cortès-Saladelafont, Elisenda and Palacios, Natalia Juliá and Podzamczer-Valls, Inés and Cruz, Nuria Gutiérrez and Jiménez, María Rosario Domingo and Micó, Salvador Ibáñez and Vila, Miguel Tomás and Jeltsch, Kathrin and Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas and Fragua, Ramón Velázquez and Gómez, Teresa and Fortuny, Oscar Alcoverro and Jiménez, Inmaculada García and Laso, Eduardo López and Martínez, Ana Roche and López, Jordi Muchart and Garcia-Cazorla, Àngels}, title={Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders}, year={2022}, pages={2179-2190}, language={eng}, issn={1432-1920}, volume={64}, number={11}, note={Gesehen am 09.08.2023}, journal={Neuroradiology}, doi={10.1007/s00234-022-02989-8}, } @article{UBHD-68687473, author={Brennenstuhl, Heiko and Didiášová, Miroslava and Assmann, Birgit and Bertoldi, Mariarita and Molla, Gianluca and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Schr{\"o}ter, Julian and Opladen, Thomas and Tikkanen, Ritva}, title={Succinic semialdehyde dehydrogenase deficiency}, subtitle={in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1}, year={2020}, pages={1-15}, language={eng}, issn={1422-0067 and 1661-6596}, volume={21}, note={Gesehen am 02.02.2021}, journal={International journal of molecular sciences}, doi={10.3390/ijms21228578}, } @article{UBHD-69211369, author={Deininger, Luca and Jung-Klawitter, Sabine and Mikut, Ralf and Richter, Petra and Fischer, Manuel and Karimian-Jazi, Kianush and Breckwoldt, Michael O. and Bendszus, Martin and Heiland, Sabine and Kleesiek, Jens Philipp and Opladen, Thomas and Kuseyri H{\"u}bschmann, Oya and H{\"u}bschmann, Daniel and Schwarz, Daniel}, title={An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids}, year={2023}, pages={1-9}, language={eng}, issn={2045-2322}, volume={13}, number={Artikel-ID 21231}, note={Gesehen am 06.05.2024}, journal={Scientific reports}, doi={10.1038/s41598-023-48343-7}, } @article{UBHD-69283525, author={Erdal, Izzet and Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Haas, Dorothea and G{\"u}nbey, Ceren and Ertuğrul, İlker and Yalnızoğlu, Dilek}, title={Dihydropyrimidinase deficiency with atrioventricular septal defect}, subtitle={a case report}, year={2024}, pages={741-744}, language={eng}, issn={2191-0251}, volume={37}, number={8}, note={Gesehen am 13.12.2024}, journal={The journal of pediatric endocrinology and metabolism}, doi={10.1515/jpem-2023-0518}, } @article{UBHD-69129795, author={Himmelreich, Nastassja and Bertoldi, Mariarita and Alfadhel, Majid and Alghamdi, Malak Ali and Anikster, Yair and Bao, Xinhua and Bashiri, Fahad A. and Zeev, Bruria Ben and Bisello, Giovanni and Ceylan, Ahmet Cevdet and Chien, Yin-Hsiu and Choy, Yew Sing and Elsea, Sarah H. and Flint, Lisa and García-Cazorla, Àngels and Gijavanekar, Charul and G{\"u}m{\"u}ş, Emel Yılmaz and Hamad, Muddathir H. and Hişmi, Burcu and Honzik, Tomas and Kuseyri H{\"u}bschmann, Oya and Hwu, Wuh-Liang and Ibáñez-Micó, Salvador and Jeltsch, Kathrin and Juliá-Palacios, Natalia and Kasapkara, Çiğdem Seher and Kurian, Manju A. and Kusmierska, Katarzyna and Liu, Ning and Ngu, Lock Hock and Odom, John D. and Ong, Winnie Peitee and Opladen, Thomas and Oppeboen, Mari and Pearl, Phillip L. and Pérez, Belén and Pons, Roser and Rygiel, Agnieszka Magdalena and Shien, Tan Ee and Spaull, Robert and Sykut-Cegielska, Jolanta and Tabarki, Brahim and Tangeraas, Trine and Th{\"o}ny, Beat and Wassenberg, Tessa and Wen, Yongxin and Yakob, Yusnita and Yin, Jasmine Goh Chew and Zeman, Jiri and Blau, Nenad}, title={Corrigendum to}, subtitle={Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes}, year={2023}, pages={1-5}, language={eng}, issn={1096-7206}, volume={139}, note={Gesehen am 16.10.2023}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2023.107647}, } @article{UBHD-69107918, author={Himmelreich, Nastassja and Bertoldi, Mariarita and Alfadhel, Majid and Alghamdi, Malak Ali and Anikster, Yair and Bao, Xinhua and Bashiri, Fahad A. and Zeev, Bruria Ben and Bisello, Giovanni and Ceylan, Ahmet Cevdet and Chien, Yin-Hsiu and Choy, Yew Sing and Elsea, Sarah H. and Flint, Lisa and García-Cazorla, Àngels and Gijavanekar, Charul and G{\"u}m{\"u}ş, Emel Yılmaz and Hamad, Muddathir H. and Hişmi, Burcu and Honzik, Tomas and Kuseyri H{\"u}bschmann, Oya and Hwu, Wuh-Liang and Ibáñez-Micó, Salvador and Jeltsch, Kathrin and Juliá-Palacios, Natalia and Kasapkara, Çiğdem Seher and Kurian, Manju A. and Kusmierska, Katarzyna and Liu, Ning and Ngu, Lock Hock and Odom, John D. and Ong, Winnie Peitee and Opladen, Thomas and Oppeboen, Mari and Pearl, Phillip L. and Pérez, Belén and Pons, Roser and Rygiel, Agnieszka Magdalena and Shien, Tan Ee and Spaull, Robert and Sykut-Cegielska, Jolanta and Tabarki, Brahim and Tangeraas, Trine and Th{\"o}ny, Beat and Wassenberg, Tessa and Wen, Yongxin and Yakob, Yusnita and Yin, Jasmine Goh Chew and Zeman, Jiri and Blau, Nenad}, title={Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes}, year={2023}, pages={1-15}, language={eng}, issn={1096-7206}, volume={139}, note={Online verf{\"u}gbar: 2. Juni 2023, Artikelversion: 20. Juni 2023 ; Gesehen am 09.08.2023}, journal={Molecular genetics and metabolism}, doi={10.1016/j.ymgme.2023.107624}, } @incollection{UBHD-69117802, author={Hoffmann, Georg F. and Kuseyri H{\"u}bschmann, Oya}, title={Abnormalities of tetrahydrobiopterin metabolism}, year={2023}, pages={?}, language={eng}, issn={2831-9125}, note={Gesehen am 31.08.2023}, booktitle={MedLink neurology}, } @article{UBHD-69240421, author={Julià-Palacios, Natalia and Kuseyri H{\"u}bschmann, Oya and Olivella, Mireia and Pons, Roser and Horvath, Gabriella and L{\"u}cke, Thomas and Fung, Cheuk-Wing and Wong, Suet-Na and Cortès-Saladelafont, Elisenda and Rovira-Remisa, M. Mar and Yıldız, Yılmaz and Mercimek-Andrews, Saadet and Assmann, Birgit and Stevanović, Galina and Manti, Filippo and Brennenstuhl, Heiko and Jung-Klawitter, Sabine and Jeltsch, Kathrin and Sivri, H. Serap and Garbade, Sven and García-Cazorla, Àngels and Opladen, Thomas}, title={The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency}, year={2024}, pages={447-462}, language={eng}, issn={1573-2665}, volume={47}, number={3 vom: Mai}, note={Zuerst ver{\"o}ffentlicht: 18. M{\"a}rz 2024 ; Gesehen am 05.08.2024}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12723}, } @article{UBHD-68441603, author={Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya}, title={Analysis of catecholamines and pterins in inborn errors of monoamine neurotransmitter metabolism}, subtitle={from past to future}, year={2019}, pages={45 S.}, language={eng}, issn={2073-4409}, volume={8(2019}, note={Gesehen am 17.10.2019}, journal={Cells}, doi={10.3390/cells8080867}, } @article{UBHD-69108017, author={Keller, Mareike and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Manti, Filippo and Julia Palacios, Natalia Alexandra and Friedman, Jennifer R. and Yıldız, Yılmaz and Koht, Jeanette Aimee and Wong, Suet-Na and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Pons, Roser and Kulhánek, Jan and Jeltsch, Kathrin and Serrano-Lomelin, Jesus and Garbade, Sven and Opladen, Thomas and Goez, Helly and Burlina, Alberto and Cortès-Saladelafont, Elisenda and Fernández Ramos, Joaquín Alejandro and García-Cazorla, Angeles and Hoffmann, Georg F. and Kiat Hong, Stacey Tay and Honzík, Tomáš and Kavecan, Ivana and Kurian, Manju A. and Leuzzi, Vincenzo and L{\"u}cke, Thomas and Manzoni, Francesca and Mastrangelo, Mario and Mercimek-Andrews, Saadet and Mir, Pablo and Oppebøen, Mari and Pearson, Toni S. and Sivri, H. Serap and Steel, Dora and Stevanović, Galina and Fung, Cheuk-Wing}, title={Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders}, subtitle={Data from the iNTD registry}, year={2021}, pages={1489-1502}, language={eng}, issn={1573-2665}, volume={44}, number={6 vom: Nov.}, note={Online ver{\"o}ffentlicht: 9. Juli 2021 ; Gesehen am 09.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12416}, url={https://doi.org/10.1002/jimd.12416}, library={UB}, } @article{UBHD-68323692, author={Kuseyri H{\"u}bschmann, Oya and Haas, Dorothea and Lang, Nina and Sch{\"a}kel, Knut and Bettendorf, Markus}, title={Amyloidosis cutis dyschromica, a rare cause of hyperpigmentation}, subtitle={a new case and literature review}, year={2017}, pages={6 S.}, language={eng}, issn={1098-4275}, volume={139}, note={Gesehen am 31.10.2018}, journal={Pediatrics}, doi={10.1542/peds.2016-0170}, } @incollection{UBHD-69117806, author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas}, title={Aromatic L-amino acid decarboxylase deficiency}, year={2020}, pages={?}, language={eng}, note={Gesehen am 31.08.2023}, booktitle={Orphanet}, } @article{UBHD-69107870, author={Kuseyri H{\"u}bschmann, Oya and Mohr, Alexander and Friedman, Jennifer and Manti, Filippo and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Mercimek-Andrews, Saadet and Yildiz, Yilmaz and Pons, Roser and Kulhánek, Jan and Oppebøen, Mari and Koht, Jeanette Aimee and Podzamczer-Valls, Inés and Domingo-Jimenez, Rosario and Ibáñez, Salvador and Alcoverro-Fortuny, Oscar and Gómez-Alemany, Teresa and de Castro, Pedro and Alfonsi, Chiara and Zafeiriou, Dimitrios I. and López-Laso, Eduardo and Guder, Philipp and Santer, René and Honzík, Tomáš and Hoffmann, Georg F. and Garbade, Sven and Sivri, H. Serap and Leuzzi, Vincenzo and Jeltsch, Kathrin and García-Cazorla, Angeles and Opladen, Thomas and Harting, Inga}, title={Brain MR patterns in inherited disorders of monoamine neurotransmitters}, subtitle={an analysis of 70 patients}, year={2021}, pages={1070-1082}, language={eng}, issn={1573-2665}, volume={44}, number={4 vom: Juli}, note={Online ver{\"o}ffentlicht: 14. Januar 2021 ; Gesehen am 09.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12360}, url={https://doi.org/10.1002/jimd.12360}, library={UB}, } @book{UBHD-67465901, author={Kuseyri H{\"u}bschmann, Oya}, title={Diagnostic performance of an automated breast ultrasound system (SomoV®) in comparison with hand-held ultrasound and mammography for histopathologically proven breast lesions}, year={2013}, pages={85 Bl.}, language={eng}, school={Heidelberg, Univ., Diss., 2013}, library={UB [Signatur: 2013 U 820]}, } @incollection{UBHD-69117808, author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas and Wassenberg, Tessa}, title={Dopamine beta-hydroxylase deficiency}, year={2021}, pages={?}, language={eng}, note={Gesehen am 31.08.2023}, booktitle={Orphanet}, } @article{UBHD-68909440, author={Kuseyri H{\"u}bschmann, Oya and Horvath, Gabriella and Cortès-Saladelafont, Elisenda and Yıldız, Yılmaz and Pons, Roser and Friedman, Jennifer and Mercimek-Andrews, Saadet and Wong, Suet-Na and Pearson, Toni S. and Zafeiriou, Dimitrios I. and Kulhánek, Jan and Kurian, Manju A. and López-Laso, Eduardo and Oppebøen, Mari and Kılavuz, Sebile and Wassenberg, Tessa and Goez, Helly and Scholl-B{\"u}rgi, Sabine and Porta, Francesco and Honzík, Tomáš and Santer, René and Burlina, Alberto and Sivri, H. Serap and Leuzzi, Vincenzo and Hoffmann, Georg F. and Jeltsch, Kathrin and H{\"u}bschmann, Daniel and Garbade, Sven F. and Assmann, Birgit and Fung, Cheuk-Wing and Guder, Philipp and Hong, Stacey Tay Kiat and Karall, Daniela and Kato, Mitsuhiro and Kavecan, Ivana and Koht, Jeanette Aimee and Kuster, Alice and L{\"u}cke, Thomas and Manti, Filippo and Mir, Pablo and M{\"u}hlhausen, Chris and {\"O}nenli Mungan, Halise Neslihan and Palacios, Natalia Alexandra Julia and Ramos, Joaquín Alejandro Fernández and Steel, Dora and Stevanović, Galina and Sykut-Cegielska, Jolanta and Verbeek, Marcel M. and García-Cazorla, Angeles and Opladen, Thomas}, title={Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines}, year={2021}, pages={1-13}, language={eng}, issn={2041-1723}, volume={12}, number={Artikel-ID 5529}, note={Gesehen am 21.04.2022}, journal={Nature Communications}, doi={10.1038/s41467-021-25515-5}, url={https://doi.org/10.1038/s41467-021-25515-5}, library={UB}, } @article{UBHD-69107853, author={Kuseyri H{\"u}bschmann, Oya and Juliá-Palacios, Natalia Alexandra and Olivella, Mireia and Guder, Philipp and Zafeiriou, Dimitrios I. and Horvath, Gabriela Ana and Kulhánek, Jan and Pearson, Toni S. and Kuster, Alice and Cortès-Saladelafont, Elisenda and Ibáñez, Salvador and García-Jiménez, Maria Concepción and Honzík, Tomáš and Santer, René and Jeltsch, Kathrin and Garbade, Sven and Hoffmann, Georg F. and Opladen, Thomas and García-Cazorla, Ángeles}, title={Integrative approach to predict severity in nonketotic hyperglycinemia}, year={2022}, pages={292-303}, language={eng}, issn={1531-8249}, volume={92}, number={2 vom: Aug.}, note={Gesehen am 09.08.2023}, journal={Annals of neurology}, doi={10.1002/ana.26423}, } @article{UBHD-68451755, author={Kuseyri H{\"u}bschmann, Oya and Opladen, Thomas}, title={Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders}, year={2018}, pages={849-863}, language={eng}, issn={1573-2665}, volume={41}, number={5}, note={Gesehen am 07.11.2019}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-018-0169-0}, } @article{UBHD-68639785, author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya}, title={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies}, year={2020}, pages={1-30}, language={eng}, issn={1750-1172}, volume={15}, number={Artikel-ID 126}, note={Im Text ist "4" tiefgestellt ; Gesehen am 23.09.2020}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-020-01379-8}, } @article{UBHD-68639786, author={Opladen, Thomas and López-Laso, Eduardo and Cortès-Saladelafont, Elisenda and Pearson, Toni S. and Sivri, H. Serap and Yildiz, Yilmaz and Assmann, Birgit and Kurian, Manju A. and Leuzzi, Vincenzo and Heales, Simon and Pope, Simon and Porta, Francesco and García-Cazorla, Angeles and Honzík, Tomáš and Pons, Roser and Regal, Luc and Goez, Helly and Artuch, Rafael and Hoffmann, Georg F. and Horvath, Gabriella and Th{\"o}ny, Beat and Scholl-B{\"u}rgi, Sabine and Burlina, Alberto and Verbeek, Marcel M. and Mastrangelo, Mario and Friedman, Jennifer and Wassenberg, Tessa and Jeltsch, Kathrin and Kulhánek, Jan and Kuseyri H{\"u}bschmann, Oya}, title={Correction to}, subtitle={Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies}, year={2020}, pages={1-5}, language={eng}, issn={1750-1172}, volume={15}, number={Artikel-ID 202}, note={Gesehen am 23.09.2020}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-020-01464-y}, } @article{UBHD-68067142, author={Opladen, Thomas and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Jeltsch, Kathrin}, title={The International Working Group on Neurotransmitter related Disorders (iNTD)}, subtitle={a worldwide research project focused on primary and secondary neurotransmitter disorders}, year={2016}, pages={61-66}, language={eng}, issn={2214-4269}, volume={9}, note={Gesehen am 21.12.2016}, journal={Molecular genetics and metabolism reports}, doi={10.1016/j.ymgmr.2016.09.006}, url={http://dx.doi.org/10.1016/j.ymgmr.2016.09.006}, library={UB}, } @article{UBHD-69065521, author={Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Call, Debora and Green, Kim and Schara, Ulrike and Rascher, Wolfgang and H{\"o}vel, Annegret and Assmann, Birgit and K{\"o}lker, Stefan and Westhoff, Jens and Walter, Magdalena and Ziegler, Andreas and Hoffmann, Georg F. and Kiening, Karl}, title={Die intrazerebrale Gentherapie des Aromatischen-L-Aminos{\"a}ure-Decarboxylase-Mangels mit Eladocagene exuparvovec}, year={2021}, pages={738-747}, language={ger}, issn={1433-0474}, volume={169}, number={8}, note={Gesehen am 14.04.2023}, journal={Monatsschrift Kinderheilkunde}, doi={10.1007/s00112-021-01232-7}, url={https://doi.org/10.1007/s00112-021-01232-7}, library={UB}, } @article{UBHD-69107901, author={Roubertie, Agathe and Opladen, Thomas and Brennenstuhl, Heiko and Kuseyri H{\"u}bschmann, Oya and Flint, Lisa and Willemsen, Michel A. and Leuzzi, Vincenzo and Cazorla, Angels Garcia and Kurian, Manju A. and François-Heude, Marie Céline and Hwu, Paul and Zeev, Bruria Ben and Kiening, Karl and Roujeau, Thomas and Pons, Roser and Pearson, Toni S.}, title={Gene therapy for aromatic L-amino acid decarboxylase deficiency}, subtitle={requirements for safe application and knowledge-generating follow-up}, year={2023}, pages={1-13}, language={eng}, issn={1573-2665}, note={Gesehen am 09.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12649}, url={https://doi.org/10.1002/jimd.12649}, library={UB}, } @article{UBHD-69362466, author={Scharré, Svenja and Mengler, Katharina and Schnabel-Besson, Elena and Kuseyri H{\"u}bschmann, Oya and Tuncel, Ali Tunç and Hoffmann, Georg F. and Garbade, Sven and M{\"u}tze, Ulrike and K{\"o}lker, Stefan}, title={Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease}, subtitle={a meta-analysis}, year={2025}, pages={1-11}, language={eng}, issn={1530-0366}, volume={27}, note={Online verf{\"u}gbar 18 October 2024, Version des Artikels 21 November 2024 ; Gesehen am 03.07.2025}, journal={Genetics in medicine}, doi={10.1016/j.gim.2024.101303}, } @article{UBHD-69107381, author={Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Akg{\"o}z Karaosmanoğlu, Ayça and Manti, Filippo and Karaca, Meryem and Schwartz, Ida Vanessa and Pons, Roser and López-Laso, Eduardo and Palacios, Natalia Alexandra Julia and Porta, Francesco and Kavecan, Ivana and Balcı, Mehmet Cihan and Dy-Hollins, Marisela E. and Wong, Suet-Na and Oppebøen, Mari and Medeiros, Leonardo Simão and de Paula, Leila Cristina Pedroso and García-Cazorla, Angeles and Hoffmann, Georg F. and Jeltsch, Kathrin and Leuzzi, Vincenzo and G{\"o}kçay, G{\"u}lden and H{\"u}bschmann, Daniel and Harting, Inga and {\"O}z{\"o}n, Z. Alev and Sivri, Serap and Opladen, Thomas}, title={Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism}, year={2023}, pages={1-16}, language={eng}, issn={1573-2665}, note={Gesehen am 08.08.2023}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12658}, url={https://doi.org/10.1002/jimd.12658}, library={UB}, }