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Page 1
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: pons r. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS. Roubertie A, et al. Among authors: pons r. J Inherit Metab Dis. 2023 Jul 4. doi: 10.1002/jimd.12649. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37402126
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: pons r. J Inherit Metab Dis. 2023 Jul 15. doi: 10.1002/jimd.12658. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 37452721
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: pons r. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: pons r. J Inherit Metab Dis. 2024 Mar 18. doi: 10.1002/jimd.12723. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38499966
The implications of the COVID-19 pandemic on eating disorder features and comorbid psychopathology among adolescents with anorexia nervosa and matched controls: a comparative cohort design study.
Bracké K, Steegers C, van der Harst T, Pons R, Legerstee J, Dierckx B, de Nijs P, Bax-van Berkel M, van Elburg A, Hekkelaan M, Hokke J, de Jong-Zuidema H, Korthals Altes L, Lengton-van der Spil F, Luijkx J, Schuurmans F, Smeets C, van Wijk L, Woltering C, Vernooij M, Hillegers M, White T, Dieleman G. Bracké K, et al. Among authors: pons r. Eat Weight Disord. 2024 Feb 12;29(1):13. doi: 10.1007/s40519-024-01640-0. Eat Weight Disord. 2024. PMID: 38347293 Free PMC article.
Tailored Design of a Water-Based Nanoreactor Technology for Producing Processable Sub-40 Nm 3D COF Nanoparticles at Atmospheric Conditions.
Llauradó-Capdevila G, Veciana A, Guarducci MA, Mayoral A, Pons R, Hertle L, Ye H, Mao M, Sevim S, Rodríguez-San-Miguel D, Sorrenti A, Jang B, Wang Z, Chen XZ, Nelson BJ, Matheu R, Franco C, Pané S, Puigmartí-Luis J. Llauradó-Capdevila G, et al. Among authors: pons r. Adv Mater. 2024 Apr;36(14):e2306345. doi: 10.1002/adma.202306345. Epub 2023 Dec 29. Adv Mater. 2024. PMID: 38146105
278 results