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Year Number of Results
2011 1
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2016 5
2017 2
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2020 6
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2025 0

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37 results

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Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: cortes saladelafont e. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
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: cortes saladelafont e. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.
Cortès-Saladelafont E, Molero-Luis M, Hsjd Working Group, Artuch R, García-Cazorla À. Cortès-Saladelafont E, et al. Semin Pediatr Neurol. 2016 Nov;23(4):351-358. doi: 10.1016/j.spen.2016.11.009. Epub 2016 Nov 10. Semin Pediatr Neurol. 2016. PMID: 28284396
The ethical framework for performing research with rare inherited neurometabolic disease patients.
Giannuzzi V, Devlieger H, Margari L, Odlind VL, Ragab L, Bellettato CM, D'Avanzo F, Lampe C, Cassis L, Cortès-Saladelafont E, Cazorla ÁG, Barić I, Cvitanović-Šojat L, Fumić K, Dali CI, Bartoloni F, Bonifazi F, Scarpa M, Ceci A. Giannuzzi V, et al. Among authors: cortes saladelafont e. Eur J Pediatr. 2017 Mar;176(3):395-405. doi: 10.1007/s00431-017-2852-9. Epub 2017 Jan 16. Eur J Pediatr. 2017. PMID: 28093642 Free PMC article. Review.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Kuseyri Hübschmann O, Juliá-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortès-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T, García-Cazorla Á. Kuseyri Hübschmann O, et al. Among authors: cortes saladelafont e. Ann Neurol. 2022 Aug;92(2):292-303. doi: 10.1002/ana.26423. Epub 2022 Jun 16. Ann Neurol. 2022. PMID: 35616651
37 results