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Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Published in:
Pediatric Pulmonology, 2020, v. 55, n. 11, p. 3057, doi. 10.1002/ppul.25031
By:
- Lenz, Dominic;
- Stahl, Mirjam;
- Seidl, Elias;
- Schöndorf, Dominik;
- Brennenstuhl, Heiko;
- Gesenhues, Florian;
- Heinzmann, Tina;
- Longerich, Thomas;
- Mendes, Marisa I.;
- Prokisch, Holger;
- Salomons, Gajja S.;
- Schön, Carola;
- Smith, Desirée E. C.;
- Sommerburg, Olaf;
- Wagner, Matias;
- Westhoff, Jens H.;
- Reiter, Karl;
- Staufner, Christian;
- Griese, Matthias
Publication type:
Article
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 246, doi. 10.1002/jmd2.12362
By:
- Peters, Bianca;
- Wiemers, Felix;
- Lenz, Dominic;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Köhler, Siegmund;
- Staufner, Christian
Publication type:
Article
FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis.
Published in:
PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230898
By:
- Garbade, Sven F.;
- Zielonka, Matthias;
- Mechler, Konstantin;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Staufner, Christian;
- Mengel, Eugen;
- Ries, Markus
Publication type:
Article
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study.
Published in:
Children, 2023, v. 10, n. 1, p. 113, doi. 10.3390/children10010113
By:
- Kovacevic, Alexander;
- Garbade, Sven F.;
- Hörster, Friederike;
- Hoffmann, Georg F.;
- Gorenflo, Matthias;
- Mereles, Derliz;
- Kölker, Stefan;
- Staufner, Christian
Publication type:
Article
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Published in:
Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 5, doi. 10.1007/s10545-016-9972-7
By:
- Barić, Ivo;
- Staufner, Christian;
- Augoustides-Savvopoulou, Persephone;
- Chien, Yin-Hsiu;
- Dobbelaere, Dries;
- Grünert, Sarah;
- Opladen, Thomas;
- Petković Ramadža, Danijela;
- Rakić, Bojana;
- Wedell, Anna;
- Blom, Henk
Publication type:
Article
Genetic cause and prevalence of hydroxyprolinemia.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 625, doi. 10.1007/s10545-016-9940-2
By:
- Staufner, Christian;
- Haack, Tobias;
- Feyh, Patrik;
- Gramer, Gwendolyn;
- Raga, Deepthi;
- Terrile, Caterina;
- Sauer, Sven;
- Okun, Jürgen;
- Fang-Hoffmann, Junmin;
- Mayatepek, Ertan;
- Prokisch, Holger;
- Hoffmann, Georg;
- Kölker, Stefan
Publication type:
Article
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y
By:
- Staufner, Christian;
- Lindner, Martin;
- Dionisi-Vici, Carlo;
- Freisinger, Peter;
- Dobbelaere, Dries;
- Douillard, Claire;
- Makhseed, Nawal;
- Straub, Beate;
- Kahrizi, Kimia;
- Ballhausen, Diana;
- Marca, Giancarlo;
- Kölker, Stefan;
- Haas, Dorothea;
- Hoffmann, Georg;
- Grünert, Sarah;
- Blom, Henk
Publication type:
Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7
By:
- Staufner, Christian;
- Haack, Tobias;
- Köpke, Marlies;
- Straub, Beate;
- Kölker, Stefan;
- Thiel, Christian;
- Freisinger, Peter;
- Baric, Ivo;
- McKiernan, Patrick;
- Dikow, Nicola;
- Harting, Inga;
- Beisse, Flemming;
- Burgard, Peter;
- Kotzaeridou, Urania;
- Lenz, Dominic;
- Kühr, Joachim;
- Himbert, Urban;
- Taylor, Robert;
- Distelmaier, Felix;
- Vockley, Jerry
Publication type:
Article
Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases.
Published in:
2014
By:
- Staufner, Christian;
- Peters, Verena
Publication type:
Book Review
Expression of glutamate receptor subunits in human cancers.
Published in:
Histochemistry & Cell Biology, 2009, v. 132, n. 4, p. 435, doi. 10.1007/s00418-009-0613-1
By:
- Stepulak, Andrzej;
- Luksch, Hella;
- Gebhardt, Christine;
- Uckermann, Ortrud;
- Marzahn, Jenny;
- Sifringer, Marco;
- Rzeski, Wojciech;
- Staufner, Christian;
- Brocke, Katja S.;
- Turski, Lechoslaw;
- Ikonomidou, Chrysanthy
Publication type:
Article
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2023, v. 77, n. 1, p. 115, doi. 10.1097/MPG.0000000000003777
By:
- Lenz, Dominic;
- Hørby Jørgensen, Marianne;
- Kelly, Deirdre;
- Cardinale, Vincenzo;
- Geerts, Anja;
- Gonçalves Costa, Isabel;
- Fichtner, Alexander;
- Garbade, Sven F.;
- Hegen, Bianca;
- Hilberath, Johannes;
- de Kleine, Ruben;
- Kupčinskas, Limas;
- McLin, Valérie;
- Niesert, Moritz;
- Prado Gonzalez, Veronica;
- Sturm, Ekkehard;
- Staufner, Christian;
- Tjwa, Eric;
- Willemse, José;
- Zecher, Britta F.
Publication type:
Article
Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition Monothematic Conference, 2020: "Acute Liver Failure in Children": Treatment and Directions for Future Research.
Published in:
2022
By:
- Zellos, Aglaia;
- Debray, Dominique;
- Indolfi, Giuseppe;
- Czubkowski, Piotr;
- Samyn, Marianne;
- Hadzic, Nedim;
- Gupte, Girish;
- Fischler, Bjorn;
- Smets, Francoise;
- Clement de Clety, Stephan;
- Grenda, Ryszard;
- Mozer, Yael;
- Mancell, Sara;
- Jahnel, Jorg;
- Auzinger, Georg;
- Worth, Austen;
- Lisman, Ton;
- Staufner, Christian;
- Baumann, Ulrich;
- Dhawan, Anil
Publication type:
journal article
Proceedings of ESPGHAN Monothematic Conference 2020: "Acute Liver Failure in Children": Diagnosis and Initial Management.
Published in:
2022
By:
- Zellos, Aglaia;
- Debray, Dominique;
- Indolfi, Giuseppe;
- Czubkowski, Piotr;
- Samyn, Marianne;
- Hadzic, Nedim;
- Gupte, Girish;
- Fischler, Bjorn;
- Smets, Francoise;
- de Clety, Stephan Clement;
- Grenda, Ryszard;
- Mozer, Yael;
- Mancell, Sara;
- Jahnel, Jorg;
- Auzinger, Georg;
- Worth, Austen;
- Lisman, Ton;
- Staufner, Christian;
- Baumann, Ulrich;
- Dhawan, Anil
Publication type:
journal article
Early Exchange Transfusion to Treat Neonates With Gestational Alloimmune Liver Disease: An 11-Year Cohort Study.
Published in:
2020
By:
- Fischer, Hendrik S.;
- Staufner, Christian;
- Sallmon, Hannes;
- Henning, Stephan;
- Bührer, Christoph
Publication type:
journal article
<italic>MPV17</italic>‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Published in:
Human Mutation, 2018, v. 39, n. 4, p. 461, doi. 10.1002/humu.23387
By:
- El‐Hattab, Ayman W.;
- Wang, Julia;
- Dai, Hongzheng;
- Almannai, Mohammed;
- Staufner, Christian;
- Alfadhel, Majid;
- Gambello, Michael J.;
- Prasun, Pankaj;
- Raza, Saleem;
- Lyons, Hernando J.;
- Afqi, Manal;
- Saleh, Mohammed A. M.;
- Faqeih, Eissa A.;
- Alzaidan, Hamad I.;
- Alshenqiti, Abduljabbar;
- Flore, Leigh Anne;
- Hertecant, Jozef;
- Sacharow, Stephanie;
- Barbouth, Deborah S.;
- Murayama, Kei
Publication type:
Article

Found: 15