Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

por Kölker, Stefan, Gleich, Florian, Mütze, Ulrike, Opladen, Thomas
Publicado 2022

Entrustable professional activities in post-licensure training in primary care pediatrics: Necessity, development and implementation of a competency-based post-graduate curriculum

por Fehr, Folkert, Weiß-Becker, Christoph, Becker, Hera, Opladen, Thomas
Publicado 2017

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

por Didiasova, Miroslava, Banning, Antje, Brennenstuhl, Heiko, Jung-Klawitter, Sabine, Cinquemani, Claudio, Opladen, Thomas, Tikkanen, Ritva
Publicado 2020

Unmet Needs of Parents of Children with Urea Cycle Disorders

por Scharping, Mara, Brennenstuhl, Heiko, Garbade, Sven F., Wild, Beate, Posset, Roland, Zielonka, Matthias, Kölker, Stefan, Haun, Markus W., Opladen, Thomas
Publicado 2022

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

por Brennenstuhl, Heiko, Didiasova, Miroslava, Assmann, Birgit, Bertoldi, Mariarita, Molla, Gianluca, Jung-Klawitter, Sabine, Kuseyri Hübschmann, Oya, Schröter, Julian, Opladen, Thomas, Tikkanen, Ritva
Publicado 2020

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

por Breuer, Maximilian, Guglielmi, Luca, Zielonka, Matthias, Hemberger, Verena, Kölker, Stefan, Okun, Jürgen G., Hoffmann, Georg F., Carl, Matthias, Sauer, Sven W., Opladen, Thomas
Publicado 2019

U-IMD: the first Unified European registry for inherited metabolic diseases

por Opladen, Thomas, Gleich, Florian, Kozich, Viktor, Scarpa, Maurizio, Martinelli, Diego, Schaefer, Franz, Jeltsch, Kathrin, Juliá-Palacios, Natalia, García-Cazorla, Ángels, Dionisi-Vici, Carlo, Kölker, Stefan
Publicado 2021

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

por Hwu, Paul Wuh‐Liang, Kiening, Karl, Anselm, Irina, Compton, David R, Nakajima, Takeshi, Opladen, Thomas, Pearl, Phillip L, Roubertie, Agathe, Roujeau, Thomas, Muramatsu, Shin‐ichi
Publicado 2021

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

por Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Publicado 2016

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

por Shalash, Ali S., Rösler, Thomas W., Müller, Stefanie H., Salama, Mohamed, Deuschl, Günther, Müller, Ulrich, Opladen, Thomas, Petersen, Britt-Sabina, Franke, Andre, Hopfner, Franziska, Kuhlenbäumer, Gregor, Höglinger, Günter U.
Publicado 2017

An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids

por Deininger, Luca, Jung-Klawitter, Sabine, Mikut, Ralf, Richter, Petra, Fischer, Manuel, Karimian-Jazi, Kianush, Breckwoldt, Michael O., Bendszus, Martin, Heiland, Sabine, Kleesiek, Jens, Opladen, Thomas, Hübschmann, Oya Kuseyri, Hübschmann, Daniel, Schwarz, Daniel
Publicado 2023

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

por Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Publicado 2023

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

por Meyer, Robert, Begemann, Matthias, Hübner, Christian Thomas, Dey, Daniela, Kuechler, Alma, Elgizouli, Magdeldin, Schara, Ulrike, Ambrozaityte, Laima, Burnyte, Birute, Schröder, Carmen, Kenawy, Asmaa, Kroisel, Peter, Demuth, Stephanie, Fekete, Gyorgy, Opladen, Thomas, Elbracht, Miriam, Eggermann, Thomas
Publicado 2021

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

por Latzer, Itay Tokatly, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L., Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Bertoldi, Mariarita, Pearl, Phillip L.
Publicado 2023

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado 2016

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

por Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Publicado 2017

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

por Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Publicado 2020

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

por Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Publicado 2017

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020