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

Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance

全国范围内遗传性果糖不耐受症患者的饮食模式

Izquierdo-García, Elsa; Mora, Edorta; García-Arenas, Dolores; Martínez Chicano, Dámaris; López-García, María Soledad; Alcalde, Carlos; Belanger-Quintana, Amaya; Cañedo-Villarroya, Elvira; Ceberio, Leticia; Diego, Estrella; Bellusci, Marcello; Chumillas-Calzada, Silvia; Correcher, Patricia; Couce, María-Luz; Cano, Ainara; Gómez, Igor; Hernández, Tomás; Morales, Montserrat; Pedrón-Giner, Consuelo; Petrina Jáuregui, Estrella; Peña-Quintana, Luis; Sánchez-Pintos, Paula; Serrano-Nieto, Juliana; Unceta Suarez, María; Arza, Arantza; Vitoria Miñana, Isidro; Delgado, Teresa C; de Las Heras, Javier

Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

了解尿素循环障碍的自然病程和当前治疗策略的影响:来自西班牙UCD注册研究的启示

Martín-Hernández, Elena; Bellusci, Marcello; Pérez-Mohand, Patricia; Correcher Medina, Patricia; Blasco-Alonso, Javier; Morais-López, Ana; de Las Heras, Javier; Meavilla Olivas, Silvia María; Dougherty-de Miguel, Lucy; Couce, Maria Luz; Villarroya, Elvira Cañedo; García Jiménez, María Concepción; Moreno-Lozano, Pedro Juan; Vives, Inmaculada; Gil-Campos, Mercedes; Stanescu, Sinziana; Ceberio-Hualde, Leticia; Camprodón, María; Cortès-Saladelafont, Elisenda; López-Urdiales, Rafael; Murray Hurtado, Mercedes; Márquez Armenteros, Ana María; Sierra Córcoles, Concha; Peña-Quintana, Luis; Ruiz-Pons, Mónica; Alcalde, Carlos; Castellanos-Pinedo, Fernando; Dios, Elena; Barrio-Carreras, Delia; Martín-Cazaña, María; García-Peris, Mónica; Andrade, José David; García-Volpe, Camila; de Los Santos, Mariela; García-Cazorla, Angels; Del Toro, Mireia; Felipe-Rucián, Ana; Comino Monroy, María José; Sánchez-Pintos, Paula; Matas, Ana; Gil Ortega, David; Martín-Rivada, Álvaro; Bergua, Ana; Belanger-Quintana, Amaya; Vitoria, Isidro; Yahyaoui, Raquel; Pérez, Belén; Morales-Conejo, Montserrat; Quijada-Fraile, Pilar

Advances in Biotechnological GABA Production: Exploring Microbial Diversity, Novel Food Substrates, and Emerging Market Opportunities

生物技术生产 GABA 的进展:探索微生物多样性、新型食品底物和新兴市场机遇

Hernandez-Tenorio, Fabian; Mejía-Rúa, Mateo; Marín-Palacio, Luz Deisy; Klotz-Ceberio, Bernadette; Orrego, David; Giraldo-Estrada, Catalina

Synthesis and Characterization of Bimetallic Copper(I) Complexes Supported by a Hexadentate Naphthyridine-Based Macrocycle Ligand

六齿萘啶基大环配体支撑的双金属铜(I)配合物的合成与表征

Martínez-Ceberio, Carlos; Fernández-de-Córdova, Francisco José; Ríos, Pablo; Rivada-Wheelaghan, Orestes

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia

GAA-FGF14共济失调中小脑上脚的参与

Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Céline; Lamont, Phillipa J; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josée; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta

The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series

间质性肺病对酸性鞘磷脂酶缺乏症(ASMD)患者的影响——病例系列研究

Costa I Colomer, Jordi; Garcia-Moyano, Marta; Maiz, Luis; Perez-Tarazona, Santiago; Ruiz de Valbuena, Marta; Ceberio, Leticia; Correcher, Patricia; Juliá-Palacios, Natalia; Morales, Montse; Pérez-Yagüe, Gema; Villarrubia, Jesús; Pérez-Rojo, Raquel

Virtual BUILD Research Collaboratory: A biomedical data science training using innovative pedagogy to address structures of racism and inequitable stress for undergraduates of color

虚拟BUILD研究合作实验室:一项生物医学数据科学培训,采用创新教学法,旨在解决有色人种本科生面临的种族主义结构和不平等压力。

Ceberio, Niquo; Le, Peter; Bailey, Jasmón; Vernard, Sonthonax; Coleman, Nichole; Carrasco, Yazmin P; King, Telisa; Bibbins-Domingo, Kirsten; Nguyen, Tung; Parangan-Smith, Audrey; Uwaezuoke, Kelechi; Rivers, Robert C; Watson, Kenjus; Márquez-Magaña, Leticia; Mehta, Kala M

Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy

GAA-FGF14 共济失调 (SCA27B) 的神经放射学发现:不仅仅是小脑萎缩

Chen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Céline; Lamont, Phillipa; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josée; Agudo, Pablo Iruzubieta; Martinez, Javier Ruiz; de Lucas, Enrique Marco; Berjon, Rodrigo Sutil; Ceberio, Jon Infante; Indelicato, Elisabetta; Boesch, Sylvia; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

两项病例对照研究表明,累积遗传评分和C9orf72重复状态均独立影响肌萎缩侧索硬化症的风险。

Dou, John; Bakulski, Kelly; Guo, Kai; Hur, Junguk; Zhao, Lili; Saez-Atienzar, Sara; Stark, Ali; Chia, Ruth; García-Redondo, Alberto; Rojas-Garcia, Ricardo; Vázquez Costa, Juan Francisco; Fernandez Santiago, Ruben; Bandres-Ciga, Sara; Gómez-Garre, Pilar; Periñán, Maria Teresa; Mir, Pablo; Pérez-Tur, Jordi; Cardona, Fernando; Menendez-Gonzalez, Manuel; Riancho, Javier; Borrego-Hernández, Daniel; Galán-Dávila, Lucia; Infante Ceberio, Jon; Pastor, Pau; Paradas, Carmen; Dols-Icardo, Oriol; Traynor, Bryan J; Feldman, Eva L; Goutman, Stephen A

Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies

更正:两项病例对照研究表明,累积遗传评分和 C9orf72 重复状态均独立影响肌萎缩侧索硬化症的风险。

Dou, John; Bakulski, Kelly; Guo, Kai; Hur, Junguk; Zhao, Lili; Saez-Atienzar, Sara; Stark, Ali; Chia, Ruth; García-Redondo, Alberto; Rojas-Garcia, Ricardo; Vázquez Costa, Juan Francisco; Santiago, Ruben Fernandez; Bandres-Ciga, Sara; Gómez-Garre, Pilar; Periñán, Maria Teresa; Mir, Pablo; Pérez-Tur, Jordi; Cardona, Fernando; Menendez-Gonzalez, Manuel; Riancho, Javier; Borrego-Hernández, Daniel; Galán-Dávila, Lucia; Ceberio, Jon Infante; Pastor, Pau; Paradas, Carmen; Dols-Icardo, Oriol; Traynor, Bryan J; Feldman, Eva L; Goutman, Stephen A