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

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

MCT8 缺乏症中多巴胺代谢改变及对左旋多巴/卡比多巴治疗的反应

Bruschi, Fabio; Vaia, Ylenia; Antonello, Clara E; Spada, Marco; Porta, Francesco; Marinaccio, Cristina; Carducci, Claudia; Opladen, Thomas; Sartorelli, Jacopo; Zibordi, Federica Maria; Ghezzi, Daniele; Nicita, Francesco; Tonduti, Davide

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

一种用于脑脊液神经代谢疾病综合诊断的新型多模态液相色谱-串联质谱(LC-MS/MS)检测方法

Christ, Stine; Rossmann, Julia; Richter, Sylvia; Garbade, Sven; Klinke, Glynis; Blau, Nenad; Hoffmann, Georg Friedrich; Okun, Jürgen Günther; Opladen, Thomas

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria

即时检测生物传感器在苯丙酮尿症患者中苯丙氨酸的实际应用

Gondrand, Corentin; Reischl-Hajiabadi, Anna T; Bonedeau, Estelle; Weiß, Nicolas; Schneider, Gerd; Fahn, Maurice; Myers, Frederic; Städle, Philipp Minel; Jeltsch, Kathrin; Hoffmann, Georg F; Okun, Jürgen G; Haas, Dorothea; Garbade, Sven F; Johnsson, Kai; Opladen, Thomas

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment

患有艾伦-赫恩登-达德利综合征(MCT8 缺乏症)的患者在儿童时期会出现帕金森病症状,并且对左旋多巴/卡比多巴治疗有反应。

Wilpert, Nina-Maria; Hewitt, Angela L; Pons, Roser; Henke, Marie-Thérèse; Dell'Orco, Andrea; Bauer, Martin; Grolik, Christiane; Menz, Stephan; Wahle, Monika; Zink, Annika; Prigione, Alessandro; Reinauer, Christina; Lange, Catharina; Furth, Christian; Brockmann, Knut; Jung-Klawitter, Sabine; Christ, Stine; Kaindl, Angela M; Tietze, Anna; Krude, Heiko; Opladen, Thomas; Schuelke, Markus

Trial Readiness: Understanding the Natural History of Rare Diseases

临床试验准备:了解罕见病的自然病程

Opladen, Thomas; Mütze, Ulrike; Gleich, Florian; Garbade, Sven F; Kuseyri Hübschmann, Oya; Zielonka, Matthias; Kölker, Stefan

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶(TH)缺乏症诊断和治疗共识指南

Bondarenko, Mariya Sigatullina; Kuseyri Hübschmann, Oya; Kulhánek, Jan; Pons, Roser; Pearson, Toni S; Jeltsch, Kathrin; Badnjarevic, Ivana; Wassenberg, Tessa; Horvath, Gabriella; Stevanovic, Galina; Kurian, Manju A; Cortès-Saladelafont, Elisenda; Roubertie, Agathe; Leuzzi, Vincenzo; Bertoldi, Mariarita; Mastrangelo, Mario; Assmann, Birgit; Garcia-Cazorla, Angeles; Opladen, Thomas

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

SSADH 缺乏症(一种 GABA 代谢神经递质紊乱)的神经心理学特征

Itay Tokatly Latzer ,Ellen Hanson ,Mariarita Bertoldi ,Melissa L DiBacco ,Deniz Aygun ,Onur Afacan ,Àngeles García-Cazorla ,Natalia Juliá-Palacios ,Thomas Opladen ,Oya Kuseyri Hübschmann ,Kathrin Jeltsch ,Petra Aden ,Mari Oppebøen ,Alexander Rotenberg ,Melissa Tsuboyama ,Jean-Baptiste Roullet ,Phillip L Pearl

An atypical presentation in a child with propionic acidemia? Better think twice!

儿童丙酸血症出现非典型表现?最好三思!

Burkhardt, Tim; Kastor, Katharine L; Christ, Stine; Opladen, Thomas; Staufner, Christian; Beck-Wödl, Stefanie; Haack, Tobias; Hempel, Maja; Seitz, Angelika; Kölker, Stefan

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

SSADH 缺乏症(一种典型的代谢性神经发育障碍)5 年自然史研究的临床和分子结果

Itay Tokatly Latzer ,Jean-Baptiste Roullet ,Wardiya Afshar-Saber ,Henry H C Lee ,Mariarita Bertoldi ,Gabrielle E McGinty ,Melissa L DiBacco ,Erland Arning ,Melissa Tsuboyama ,Alexander Rotenberg ,Thomas Opladen ,Kathrin Jeltsch ,Àngels García-Cazorla ,Natalia Juliá-Palacios ,K Michael Gibson ,Mustafa Sahin ,Phillip L Pearl