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

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment

GEMIN5基因突变与辅酶Q10缺乏症相关:治疗后的长期随访

Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael

Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events

2015年至2022年加泰罗尼亚新生儿镰状细胞病筛查——流行病学及对临床事件的影响

González de Aledo-Castillo, José Manuel; Argudo-Ramírez, Ana; Beneitez-Pastor, David; Collado-Gimbert, Anna; Almazán Castro, Francisco; Roig-Bosch, Sílvia; Andrés-Masó, Anna; Ruiz-Llobet, Anna; Pedrals-Portabella, Georgina; Medina-Santamaria, David; Nadal-Rey, Gemma; Espigares-Salvia, Marina; Coll-Sibina, Maria Teresa; Algar-Serrano, Marcelina; Torrent-Español, Montserrat; Leoz-Allegretti, Pilar; Rodríguez-Pebé, Anabel; García-Bernal, Marta; Solà-Segura, Elisabet; García-Gallego, Amparo; Prats-Viedma, Blanca; López-Galera, Rosa María; Paredes-Fuentes, Abraham J; Pajares García, Sonia; Delgado-López, Giovanna; Blanco-Álvarez, Adoración; Tazón-Vega, Bárbara; Díaz de Heredia, Cristina; Mañú-Pereira, María Del Mar; Marín-Soria, José Luis; García-Villoria, Judit; Velasco-Puyó, Pablo; On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

探讨儿童血脂异常患者的血浆辅酶 Q10 状态

Beatriz Minguez, Mariela de Los Santos, Camila Garcia-Volpe, Cristina Molera, Abraham J Paredes-Fuentes, Clara Oliva, Angela Arias, Helena Rodriguez-Gonzalez, Delia Yubero, Mireia Tondo, Carlos Santos-Ocaña, Silvia Meavilla, Rafael Artuch

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh 综合征是 PTCD3 缺陷的主要临床特征

Gerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Delia Yubero, Angels García-Cazorla, Mar O'Callaghan, Jaume Campistol, Jordi Muchart, Vicente A Yépez, Mirjana Gusic, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antonia Ribes, Ros

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

胎儿血红蛋白作为抗Kell同种免疫继发性骨髓抑制的标志物

Morales Painamil, Rodrigo Alfredo; de Aledo-Castillo, José Manuel González; Teresa-Palacio, Marta; Argudo-Ramírez, Ana; López-Galera, Rosa M; Paredes-Fuentes, Abraham J; Aldecoa-Bilbao, Victoria; Alsina-Casanova, Miguel

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Schaaf-Yang综合征病理生理学研究进展:从床旁分析到截短型MAGEL2的亚细胞分析

Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser

Technical Aspects of Coenzyme Q(10) Analysis: Validation of a New HPLC-ED Method

辅酶Q10分析的技术方面:一种新的HPLC-ED方法的验证

Paredes-Fuentes, Abraham J; Oliva, Clara; Montero, Raquel; Alcaide, Patricia; Ruijter, George J G; García-Villoria, Judit; Ruiz-Sala, Pedro; Artuch, Rafael

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

西班牙线粒体疾病的遗传图谱:全国范围的呼吁

Bellusci, Marcello; Paredes-Fuentes, Abraham J; Ruiz-Pesini, Eduardo; Gómez, Beatriz; Martín, Miguel A; Montoya, Julio; Artuch, Rafael

Coenzyme Q(10) Treatment Monitoring in Different Human Biological Samples

不同人体生物样本中辅酶Q(10)治疗监测

Paredes-Fuentes, Abraham J; Montero, Raquel; Codina, Anna; Jou, Cristina; Fernández, Guerau; Maynou, Joan; Santos-Ocaña, Carlos; Riera, Joan; Navas, Plácido; Drobnic, Franchek; Artuch, Rafael