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

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria

苯丙氨酸波动和摄入量对苯丙酮尿症患者24小时沙丙蝶呤反应性试验的影响

Nunes, Ana Jaqueline; Franceschetto, Bianca Fasolo; da Gama, Lisiane; Poloni, Soraia; Refosco, Lilia Farret; Tonon, Tassia; Monteiro, Vaneisse; Tresbach, Rafael Hencke; Sperb-Ludwig, Fernanda; Maillot, François; Schwartz, Ida Vanessa Doederlein

Postcancer rehabilitation: multidisciplinary exercise - programme organisation and feasibility

癌症后康复:多学科运动——方案组织与可行性

Drozd, Chloé; Jacquinot, Quentin; Paget-Bailly, Sophie; Mansi, Laura; Paillard, Marie-Justine; Bazan, Fernando; Chaigneau, Loic; Dobi, Erion; Viot, Julien; Meynard, Guillaume; Goujon, Morgan; Dalens, Lorraine; Pereira, Victor; Robin, Edgar; Farret, Jean; Gagnepain, Carole; Simon, Ophélie; Fagnoni-Legat, Christine; Mougin, Fabienne; Meneveau, Nathalie; Curtit, Elsa

A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

SLC2A1基因中一种新的移码变异导致轻度GLUT1缺乏综合征表型:病例报告

Sobrinho, Lívia Maria Ferreira; Silva, Thiago Oliveira; Refosco, Lilia Farret; Poloni, Soraia; Poswar, Fabiano Oliveira; de Souza, Carolina Fischinger Moura; Sperb-Ludwig, Fernanda; Schwartz, Ida Vanessa Doederlein

Hybrid Closed Loop Overcomes the Impact of Missed or Suboptimal Meal Boluses on Glucose Control in Children with Type 1 Diabetes Compared to Sensor-Augmented Pump Therapy

与传感器增强型胰岛素泵疗法相比,混合闭环系统能够克服漏服或餐前胰岛素剂量不足对1型糖尿病儿童血糖控制的影响。

Coutant, Régis; Bismuth, Elise; Bonnemaison, Elisabeth; Dalla-Vale, Fabienne; Morinais, Paul; Perrard, Maelys; Trely, Jeanne; Faure, Nathalie; Bouhours-Nouet, Natacha; Levaillant, Lucie; Farret, Anne; Storey, Caroline; Donzeau, Aurélie; Poidvin, Amélie; Amsellem-Jager, Jessica; Place, Jérôme; Quemener, Emmanuel; Hamel, Jean François; Breton, Marc D; Tubiana-Rufi, Nadia; Renard, Eric

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

糖原贮积症IV型患者的广泛特征:一项临床、遗传和组织病理学研究

Wilke, Matheus Vernet Machado Bressan; de Oliveira, Bibiana Mello; Starosta, Rodrigo Tzovenos; Shinawi, Marwan; Lu, Liang; He, Mai; Ma, Yamin; Stoll, Janis; de Souza, Carolina Fischinger Moura; de Siqueira, Ana Cecilia Menezes; Vieira, Sandra Maria Gonçalves; Cerski, Carlos Thadeu; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein

Feeding difficulties in patients with Phenylketonuria

苯丙酮尿症患者的喂养困难

Rocha, Alexia Diovana Fernandes da; Martinez, Chenia Caldeira; Refosco, Lilia Farret; Tonon, Tássia; Schwartz, Ida Vanessa Doederlein; Almeida, Sheila Tamanini de

Safety and Efficacy of Sustained Automated Insulin Delivery Compared With Sensor and Pump Therapy in Adults With Type 1 Diabetes at High Risk for Hypoglycemia: A Randomized Controlled Trial

持续自动胰岛素输注与传感器和泵疗法在1型糖尿病高危低血糖成人患者中的安全性和有效性比较:一项随机对照试验

Renard, Eric; Joubert, Michael; Villard, Orianne; Dreves, Bleuenn; Reznik, Yves; Farret, Anne; Place, Jerome; Breton, Marc D; Kovatchev, Boris P

Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia

痉挛性截瘫7型及运动障碍:超越痉挛性截瘫

Sáenz-Farret, Michel; Lang, Anthony E; Kalia, Lorraine; Cunha, Inês; Sousa, Mário; Kuhlman, Greg; Ganos, Christos; Munhoz, Renato P; Fasano, Alfonso; Piña-Avilés, Carlos Eduardo; Zúñiga-Ramírez, Carlos

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

拉丁美洲苯丙酮尿症诊断和治疗的现状及挑战:一项多中心调查

Poloni, Soraia; Dos Santos, Bruna Bento; Chiesa, Ana; Specola, Norma; Pereyra, Marcela; Saborío-Rocafort, Manuel; Salazar, María Florencia; Leal-Witt, María Jesús; Castro, Gabriela; Peñaloza, Felipe; Wong, Sunling Palma; Porras, Ramsés Badilla; Paranza, Lourdes Ortiz; Sanabria, Marta Cristina; Amieva, Marcela Vela; Morales, Marco; Naranjo, Amanda Rocío Caro; Mahfoud, Antonieta; Colmenares, Ana Rosa; Lemes, Aida; Sotillo-Lindo, José Fernando; Perez, Ceila; Rey, Laritza Martínez; Torriente, Georgina María Zayas; Refosco, Lilia Farret; Schwartz, Ida Vanessa Doederlein; Cornejo, Veronica

TNR Gene Mutation in Familial Parkinson's Disease: Possible Implications for Essential Tremor

家族性帕金森病中的TNR基因突变:对特发性震颤的可能影响

Sáenz-Farret, Michel; Munhoz, Renato Puppi; Fasano, Alfonso; Zúñiga-Ramírez, Carlos