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J

Judit García-Villoria

University of Barcelona
H指数:28
被引数:2,248

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TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis

TfR1缺乏超越联合免疫缺陷。线粒体功能和铁硫簇生物合成在疾病发病机制中的关键作用

Genes & Diseases
IF9.4
2026-09-290
OAAI
Munoz-Pujol, Gerard; Huisman, Elise J.; Mesa, Juan-Francisco; Joosten, Marieke; Devos, Annick; Fernandez-Burriel, Miguel; Ugarteburu, Olatz; Segur-Bailach, Eulalia; Gea-Sorli, Sabrina; Moliner, Sonia; Farre-Tarrats, Laia; Guitart-Mampel, Mariona; Arauz-Garofalo, Gianluca; Gay, Marina; Villamor, Neus; Martin, Gemma; Calvo, Maria; Garrabou, Gloria; Macias, Maria J.; Gort, Laura; Garcia-Villoria, Judit; Fillat, Cristina; Tort, Frederic; Ribes, Antonia
Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result

正常新生儿筛查结果后意外诊断出的经典同型胱氨酸尿症

International Journal of Neonatal Screening
IF4
2026-09-050
OA
José Manuel González de Aledo-Castillo; Mercedes Casado-Río; Sonia Pajares; Silvia Meavilla Olivas; Laura Gort; Laura Martí Sánchez; Abraham J. Paredes-Fuentes; Leticia Pias-Peleteiro; Marta Gomez-Chiari; Montserrat Quintana Vidaurri; Rosa María López-Galera; Ana Argudo-Ramírez; Jaime Sainz de Medrano; Rafael Artuch Iriberri; Judit García-Villoria; Aída Ormazábal Herrero
SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain)

重症联合免疫缺陷新生儿筛查：七年表现与结果，包括加泰罗尼亚（西班牙）的T细胞淋巴细胞减少症

Frontiers in Immunology
IF5.9
2026-04-170
OA
AA Ana Argudo-Ramírez †; AM Andrea Martín-Nalda †; JL Javier Laguna; JG Jacques G. Riviere; JM José Manuel González de Aledo-Castillo; RM Rosa M. López-Galera; RC Roger Colobran; LB Laura Batlle-Masó; YQ Yania Quintero; CM Carmen Martínez; AJ Abraham J. Paredes-Fuentes; JP Janire Perurena-Prieto; LA Laura Alonso; BP Blanca Prats-Viedma; JG Judit García-Villoria ‡; PS Pere Soler-Palacín ‡
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience

建模遗传代谢病儿科患者转诊至成人医院：临床经验

Journal of Clinical Medicine 2026, Vol. 15, Page 81
IF2.9
2025-12-230
OAAI
Aida Deudero; Esther Lasheras; Roser Ventura; Cristina Montserrat-Carbonell; José César Milisenda; Natalia Juliá-Palacios; Ana Matas; María de Talló Forga-Visa; Rosa María López-Galera; Judit García-Villoria; Mercè Placeres; Adriana Pané; Glòria Garrabou; Antonia Ribes; Francesc Cardellach; Pedro Juan Moreno-Lozano; Àngels Garcia-Cazorla; Jaume Campistol; IEM-SJD-HCB Consortia
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome

复合体IV缺乏症由COX4I1深部内含子及新生变异引起，导致进行性运动障碍和 Leigh 综合征。

Mitochondrion
IF4.5
2025-11-050
OAAI
Olatz Ugarteburu; Laia Farré-Tarrats; Gerard Muñoz-Pujol; María Unceta; Javier De Las Heras; Ainhoa Garcia-Ribes; Arantza Arza-Ruesga; Belén de la Morena; Gianluca Arauz-Garofalo; Marina Gay; Gloria Garrabou; Javier Corral; Marta Vilaseca; Antonia Ribes; Judit García-Villoria; Laura Gort; Frederic Tort
Polymeric nanoparticles for liver-targeted pituitary tumor-transforming gene 1 silencing in rats with chronic liver disease

用于慢性肝病大鼠肝脏靶向性垂体肿瘤转化基因1沉默的聚合物纳米粒

Nanomedicine: Nanotechnology, Biology and Medicine
IF0
2025-09-250
OAAI
Meritxell Perramón; María Navalón-López; Guillermo Fernández-Varo; Gregori Casals; Joana Faneca; Manuel Macías-Herranz; Loreto Boix; Yiliam Fundora; Manuel Morales-Ruiz; Judit García-Villoria; Cristina Fornaguera; Salvador Borrós; Wladimiro Jiménez
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events

2015年至2022年加泰罗尼亚地区镰状细胞病的新生儿筛查——流行病学及其对临床事件的影响

International Journal of Neonatal Screening 2024, Vol. 10, Page 69
IF4
2025-08-210
PRE
José Manuel González de Aledo-Castillo; Ana Argudo-Ramírez; David Beneitez-Pastor; Anna Collado-Gimbert; Francisco Almazán Castro; Sílvia Roig-Bosch; Anna Andrés-Masó; Anna Ruiz-Llobet; Georgina Pedrals-Portabella; David Medina-Santamaria; Gemma Nadal-Rey; Marina Espigares-Salvia; Maria Teresa Coll-Sibina; Marcelina Algar-Serrano; Montserrat Torrent-Español; Pilar Leoz-Allegretti; Anabel Rodríguez-Pebé; Marta García-Bernal; Elisabet Solà-Segura; Amparo García-Gallego; Blanca Prats-Viedma; Rosa María López-Galera; Abraham J. Paredes-Fuentes; Sonia Pajares García; Giovanna Delgado-López; Adoración Blanco-Álvarez; Bárbara Tazón-Vega; Cristina Díaz de Heredia; María del Mar Mañú-Pereira; José Luis Marín-Soria; Judit García-Villoria; Pablo Velasco-Puyó; on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia
A simple, sensitive and high-throughput assay using UPLC-MS/MS for the quantification of plasma methylmalonic acid to detect and monitor genetic and acquired methylmalonic acidurias
MICROCHEMICAL JOURNAL
IF5.1
2025-01-010
PRE
Laguna, Javier; Perez, Judit; Collado, Tatiana; Zaragoza, Carles; Alcala, Patricia; de Aledo-Castillo, Jose Manuel Gonzalez; Lopez-Galera, Rosa M.; Argudo-Ramirez, Ana; Paredes-Fuentes, Abraham J.; Arranz-Amo, Jose Antonio; Ormazabal, Aida; Carnicer-Caceres, Clara; Garcia-Villoria, Judit; Pajares, Sonia
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events

加泰罗尼亚2015年和2022的新生儿镰状细胞病筛查-流行病学及其对临床事件的影响

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2024-10-030
OAAI
Gonzalez de Aledo-Castillo, Jose Manuel; Argudo-Ramirez, Ana; Beneitez-Pastor, David; Collado-Gimbert, Anna; Almazan Castro, Francisco; Roig-Bosch, Silvia; Andres-Maso, Anna; Ruiz-Llobet, Anna; Pedrals-Portabella, Georgina; Medina-Santamaria, David; Nadal-Rey, Gemma; Espigares-Salvia, Marina; Coll-Sibina, Maria Teresa; Algar-Serrano, Marcelina; Torrent-Espanol, Montserrat; Leoz-Allegretti, Pilar; Rodriguez-Pebe, Anabel; Garcia-Bernal, Marta; Sola-Segura, Elisabet; Garcia-Gallego, Amparo; Prats-Viedma, Blanca; Lopez-Galera, Rosa Maria; Paredes-Fuentes, Abraham J.; Garcia, Sonia Pajares; Delgado-Lopez, Giovanna; Blanco-alvarez, Adoracion; Tazon-Vega, Barbara; Diaz de Heredia, Cristina; Manu-Pereira, Maria del Mar; Marin-Soria, Jose Luis; Garcia-Villoria, Judit; Velasco-Puyo, Pablo
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-07-012
PRE
Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

用于诊断先天性代谢错误的靶向超高效液相色谱串联质谱程序: 通过ERNDIM外部质量评估方案进行验证

CLINICAL CHEMISTRY AND LABORATORY MEDICINE
IF3.7
2024-03-110
PRE
Oliva, Clara; Arias, Angela; Ruiz-Sala, Pedro; Garcia-Villoria, Judit; Carling, Rachel; Bierau, Joergen; Ruijter, George J. G.; Casado, Mercedes; Ormazabal, Aida; Artuch, Rafael
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report
JOURNAL OF CLINICAL MEDICINE
IF2.9
2023-12-012
OAAI
Pane, Adriana; Carrasco-Serrano, Marcos; Milad, Camila; Leyes, Pere; Moreno-Lozano, Pedro Juan; Ventura, Roser; Milisenda, Jose Cesar; Garcia-Garcia, Francesc Josep; Garrabou, Gloria; Garcia-Villoria, Judit; Lopez-Galera, Rosa Maria; Ribes, Antonia; Grau-Junyent, Josep Maria; Forga-Visa, Maria de Tallo; Montserrat-Carbonell, Cristina
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review
JOURNAL OF CLINICAL MEDICINE
IF2.9
2023-10-081
OAAI
Pane, Adriana; Milad, Camila; Santana-Dominguez, Marta; Banos, Nuria; Borras-Novell, Cristina; Espinosa, Gerard; Magnano, Laura; Nomdedeu, Meritxell; Moreno-Lozano, Pedro Juan; Cofan, Frederic; Placeres, Merce; Fernandez, Rosa Maria; Garcia-Villoria, Judit; Garrabou, Gloria; Vinagre, Irene; Tanner, Laura M.; Montserrat-Carbonell, Cristina; Forga-Visa, Maria de Tallo
implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns (vol 16, 195, 2021)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-07-132
OAAI
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

通过基于TREC的新生儿筛查早期诊断和治疗嘌呤核苷磷酸化酶 (PNP) 缺乏症

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2021-09-295
OAAI
Martin-Nalda, Andrea; Riviere, Jacques G.; Catala-Besa, Mireia; Garcia-Prat, Marina; Parra-Martinez, Alba; Martinez-Gallo, Monica; Colobran, Roger; Argudo-Ramirez, Ana; Marin-Soria, Jose Luis; Garcia-Villoria, Judit; Alonso, Laura; Arranz-Amo, Jose Antonio; la Marca, Giancarlo; Soler-Palacin, Pere

研究方向

暂未获取到该数据
A
Antònia Ribes
H 指数:47论文数:262被引数:6,985
F
Frederic Tort
H 指数:27论文数:79被引数:7,225
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
L
Laura Gort
H 指数:29论文数:93被引数:2,040
A
Ana Argudo‐Ramírez
H 指数:9论文数:32被引数:233
J
José Manuel González de Aledo‐Castillo
H 指数:9论文数:31被引数:246
Á
Ángela Arias
H 指数:20论文数:51被引数:1,195
G
Glòria Garrabou
H 指数:31论文数:185被引数:3,354
O
Olatz Ugarteburu
H 指数:10论文数:17被引数:232
P
Paz Briones
H 指数:38论文数:133被引数:4,023