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

A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia

一项随机 Ib 期试验评估了伊洛福他酶 alfa 在低磷酸酶症成人患者中的药效学。

Seefried, Lothar; Bernholz, Juliane; Kraan, Maarten; Nitschke, Yvonne; Rutsch, Frank; Mallek, Markus; Kleinert, Sina; Genest, Franca

Reduced Descending Itch Inhibition in Peripheral Neuropathy Patients With Chronic Pruritus

周围神经病变慢性瘙痒患者的下行性瘙痒抑制减弱

Eck, Jonas; Bigalke, Stephan; Schmelz, Martin; Rosenberger, Daniela Constanze; Pradier, Bruno; Rutsch, Frank; Sommer, Claudia; Birklein, Frank; Segelcke, Daniel; Pogatzki-Zahn, Esther

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study

沙丙蝶呤在苯丙氨酸羟化酶缺乏症的儿童和成人患者中的长期安全性:Kuvan®成人、母亲和儿科欧洲注册研究多国观察性研究的最终结果

Feillet, François; Arnoux, Jean-Baptiste; Delgado, María Bueno; Burlina, Alberto; Chabrol, Brigitte; Kucuksayrac, Ece; Lagler, Florian B; Muntau, Ania C; Olsson, David; Paci, Sabrina; Rutsch, Frank; van Spronsen, Francjan J

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2

ENPP1 缺乏症的表型特征:婴儿期全身性动脉钙化和常染色体隐性遗传性低磷酸血症性佝偻病 2 型

Ferreira, Carlos R; Hackbarth, Mary E; Nitschke, Yvonne; Botschen, Ulrike; Gafni, Rachel I; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Schou, I Manjula; Khursigara, Gus; Reardon, Oona; Burklow, Thomas R; Swanner, Kathleen; Rutsch, Frank

Effects of dietary management for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) on eating behaviour in childhood, adolescence and young adulthood

饮食管理对中链酰基辅酶A脱氢酶缺乏症(MCADD)患者儿童、青少年和青年时期饮食行为的影响

Banaszak, Pauline; Wolke, Nadja; Markant, Anja; Och, Ulrike; Rutsch, Frank; Fischer, Tobias

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute

苯丙酮尿症患者(苯丙氨酸耐受性增强)蛋白质和微量营养素摄入不足的风险:富含微量营养素的蛋白质替代品的影响

Rohde, Carmen; Hofman, Denise Leonne; Klawon, Ira; Rutsch, Frank; Rodenburg, Iris; van Spronsen, Francjan; Thiele, Alena Gerlinde; Woestenenk, Willie; Beblo, Skadi

Necrolytic migratory erythema following prolonged continuous subcutaneous dasiglucagon administration: a rare dermatologic adverse event

长期持续皮下注射达西格鲁格酮后出现坏死性游走性红斑:一种罕见的皮肤不良事件

Weschle, Lucas; Potratz, Jenny; Rutsch, Frank; Humberg, Alexander; Oesingmann, Sandra; Pascher, Andreas; Busch, Alexander S; Masjosthusmann, Katja

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

沃索利肽治疗儿童软骨发育不全:早期经验和临床实践中的实用考量

Semler, Oliver; Cormier-Daire, Valérie; Lausch, Ekkehart; Bober, Michael B; Carroll, Ricki; Sousa, Sérgio B; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J; Legare, Janet M; Mohnike, Klaus; Rohrer, Tilman R; Rutsch, Frank; Smith, Pamela; Travessa, Andre M; Verardo, Angela; White, Klane K; Wilcox, William R; Hoover-Fong, Julie

Commentary on: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience

评论:布罗索单抗治疗常染色体隐性低磷酸盐性佝偻病2型:理论依据及初步临床经验

Rutsch, Frank; Salusky, Isidro B; Ferreira, Carlos R

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.

ENPP1 基因纯合剪接位点变异是婴儿期全身性动脉钙化的原因

Noor Ul Ayan Hafiza, Nitschke Yvonne, Mughal Abdul Razzaq, Thiele Holger, Malik Naveed Altaf, Hussain Ijaz, Haider Syed Muhammad Ijlal, Rutsch Frank, Erdmann Jeanette, Tariq Muhammad, Aherrahrou Zouhair, Ahmad Ilyas