日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries

酪氨酸血症1型患者的诊断、治疗、管理和监测:德语国家共识小组的建议

Das, Anibh M; Ballhausen, Diana; Haas, Dorothea; Häberle, Johannes; Hagedorn, Tobias; Janson-Mutsaerts, Cecilia; Janzen, Nils; Sander, Johannes; Freisinger, Peter; Karall, Daniela; Meyer, Uta; Mönch, Eberhard; Morlot, Susanne; Rosenbaum-Fabian, Stefanie; Scholl-Bürgi, Sabine; Vom Dahl, Stephan; Weinhold, Natalie; Zeman, Jiri; Lange, Karin

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

新生儿筛查发现患有遗传性代谢疾病的儿童及其父母所承受的心理社会和经济负担

Schnabel-Besson, Elena; Garbade, Sven F; Gleich, Florian; Grünert, Sarah C; Krämer, Johannes; Thimm, Eva; Hennermann, Julia B; Freisinger, Peter; Burgard, Peter; Gramer, Gwendolyn; Morath, Marina A; Tuncel, A Tunç; Keßler, Svenja; Hoffmann, Georg F; Kölker, Stefan; Mütze, Ulrike

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders

长链羟基脂肪酸氧化障碍的神经系统预后

Mütze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M; Lindner, Martin; Husain, Ralf A; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, René; Thimm, Eva; Vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B; Hörbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F; Garbade, Sven F; Grünert, Sarah C; Kölker, Stefan

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

DNAJC30缺陷:是隐性遗传性Leber视神经病变和Leigh综合征的常见病因。

Stenton, Sarah L; Tesarova, Marketa; Sheremet, Natalia L; Catarino, Claudia B; Carelli, Valerio; Ciara, Elżbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elżbieta; Klopstock, Thomas; Koenig, Mary K; Kolářová, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Nosková, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N; Stránecký, Viktor; Tóthová, Iveta; Träisk, Frank; Prokisch, Holger

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

RNA测序在孟德尔遗传病诊断中的临床应用

Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joél; Staufner, Christian; Stenton, Sarah L; Strom, Tim M; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Rötig, Agnès; Taylor, Robert W; Wortmann, Saskia B; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

线粒体ATP合酶的变异导致不同的神经系统表型

Zech, Michael; Kopajtich, Robert; Steinbrücker, Katja; Bris, Céline; Gueguen, Naig; Feichtinger, René G; Achleitner, Melanie T; Duzkale, Neslihan; Périvier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J T; Pais, Lynn S; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C; Wortmann, Saskia B; Eckenweiler, Matthias; Mayr, Johannes A; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane; Prokisch, Holger

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

生酮饮食治疗线粒体苹果酸天冬氨酸穿梭和丙酮酸载体缺陷

Bölsterli Bigna K, Boltshauser Eugen, Palmieri Luigi, Spenger Johannes, Brunner-Krainz Michaela, Distelmaier Felix, Freisinger Peter, Geis Tobias, Gropman Andrea L, Häberle Johannes, Hentschel Julia, Jeandidier Bruno, Karall Daniela, Keren Boris, Klabunde-Cherwon Annick, Konstantopoulou Vassiliki, Kottke Raimund, Lasorsa Francesco M, Makowski Christine, Mignot Cyril, O'Gorman Tuura Ruth, Porcelli Vito, Santer René, Sen Kuntal, Steinbrücker Katja, Syrbe Steffen, Wagner Matias, Ziegler Andreas, Zöggeler Thomas, Mayr Johannes A, Prokisch Holger, Wortmann Saskia B

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

生化亚型是戊二酸尿症1型患者认知功能的预测因子:一项全国性前瞻性随访研究

Märtner, E M Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M; Freisinger, Peter; Grünert, Sarah C; Krämer, Johannes; Baumgartner, Matthias R; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Näke, Andrea; Hoffmann, Georg F; Mühlhausen, Chris; Walter, Magdalena; Garbade, Sven F; Maier, Esther M; Kölker, Stefan; Boy, Nikolas

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

出版商更正:生化亚型是戊二酸尿症1型患者认知功能的预测因子:一项全国性前瞻性随访研究

Märtner, E M Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M; Freisinger, Peter; Grünert, Sarah C; Krämer, Johannes; Baumgartner, Matthias R; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Näke, Andrea; Hoffmann, Georg F; Mühlhausen, Chris; Walter, Magdalena; Garbade, Sven F; Maier, Esther M; Kölker, Stefan; Boy, Nikolas