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E

Elisenda Cortès-Saladelafont

Hospital Universitari Germans Trias i Pujol
H指数:17
被引数:770

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Hypertryptophanemia Associated With a Novel TDO2 Deletion and FITM2 Variant in Two Siblings With Neurodevelopmental Disorder

与神经发育障碍相关的两同胞中的新型<i>TDO2</i>缺失和<i>FITM2</i>变异引起的色氨酸血症

International Journal of Tryptophan Research
IF4.1
2026-10-090
PRE
Elisenda Cortès-Saladelafont; M. Rovira-Remisa; Núria Mestres; Marta Murillo; Andrea Ros; Belén García Jiménez; Elisabeth Castellanos Pérez; Ignacio Blanco; Adela Cisneros; Lucy Dougherty-De Miguel; José María Hernández; Aida Ormazábal; Rafael Artuch
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南

Journal of Inherited Metabolic Disease
IF3.8
2025-11-100
OAAI
Mariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

理解尿素循环障碍的自然史及当前治疗策略对其的影响：来自UCD西班牙登记研究的见解

NUTRIENTS
IF5
2025-03-280
OA
Martin-Hernandez, Elena; Bellusci, Marcello; Perez-Mohand, Patricia; Medina, Patricia Correcher; Blasco-Alonso, Javier; Morais-Lopez, Ana; de las Heras, Javier; Olivas, Silvia Maria Meavilla; Dougherty-de Miguel, Lucy; Couce, Maria Luz; Villarroya, Elvira Canedo; Jimenez, Maria Concepcion Garcia; Moreno-Lozano, Pedro Juan; Vives, Inmaculada; Gil-Campos, Mercedes; Stanescu, Sinziana; Ceberio-Hualde, Leticia; Camprodon, Maria; Cortes-Saladelafont, Elisenda; Lopez-Urdiales, Rafael; Hurtado, Mercedes Murray; Armenteros, Ana Maria Marquez; Corcoles, Concha Sierra; Pena-Quintana, Luis; Ruiz-Pons, Monica; Alcalde, Carlos; Castellanos-Pinedo, Fernando; Dios, Elena; Barrio-Carreras, Delia; Martin-Cazana, Maria; Garcia-Peris, Monica; Andrade, Jose David; Garcia-Volpe, Camila; de los Santos, Mariela; Garcia-Cazorla, Angels; del Toro, Mireia; Felipe-Rucian, Ana; Monroy, Maria Jose Comino; Sanchez-Pintos, Paula; Matas, Ana; Ortega, David Gil; Martin-Rivada, Alvaro; Bergua, Ana; Belanger-Quintana, Amaya; Vitoria, Isidro; Yahyaoui, Raquel; Perez, Belen; Morales-Conejo, Montserrat; Quijada-Fraile, Pilar
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY
IF7.7
2022-06-167
PRE
Huebschmann, Oya Kuseyri; Julia-Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhanek, Jan; Pearson, Toni S.; Kuster, Alice; Cortes-Saladelafont, Elisenda; Ibanez, Salvador; Garcia-Jimenez, Maria Concepcion; Honzik, Tomas; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; Garcia-Cazorla, Angeles
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-11-0310
OAAI
Quijada-Fraile, Pilar; Arranz Canales, Elena; Martin-Hernandez, Elena; Ballesta-Martinez, Maria Juliana; Guillen-Navarro, Encarna; Pintos-Morell, Guillem; Molto-Abad, Marc; Moreno-Martinez, David; Garcia Morillo, Salvador; Blasco-Alonso, Javier; Luz Couce, Maria; Gil Sanchez, Ricardo; Cortes-Saladelafont, Elisenda; Lopez Rodriguez, Monica A.; Garcia-Silva, Maria Teresa; Morales Conejo, Montserrat
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
NATURE COMMUNICATIONS
IF15.7
2021-09-2025
OAAI
Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

新型冠状病毒肺炎大流行对先天性代谢错误的诊断和管理的影响: 全球视角

MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-11-0132
OAAI
Elmonem, Mohamed A.; Belanger-Quintana, Amaya; Bordugo, Andrea; Boruah, Ritma; Cortes-Saladelafont, Elisenda; Endrakanti, Mounika; Giraldo, Pilar; Gruenert, Sarah Catharina; Gupta, Neerja; Kabra, Madhulika; Knerr, Ina; Kraemer, Johannes; Kuster, Alice; Levtchenko, Elena; Ngu, Lock-Hock; Rovira-Remisa, M. Mar; Sass, Joern Oliver; Sykut-Cegielska, Jolanta; Tummolo, Albina; van den Heuvel, Lambertus P.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-08-054
OAAI
Opladen, Thomas; Lopez-Laso, Eduardo; Cortes-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; Garcia-Cazorla, Angeles; Honzik, Tomas; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thoeny, Beat; Scholl-Buergi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; Mastrangelo, Mario; Friedman, Jennifer; Wassenberg, Tessa; Jeltsch, Kathrin; Kulhanek, Jan; Kuseyri Huebschmann, Oya
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia
MOVEMENT DISORDERS
IF7.6
2020-05-3021
OAAI
Ng, Joanne; Cortes-Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J. R.; Pope, Simon; Biassoni, Lorenzo; Csanyi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Deborah; Garcia-Cazorla, Angels; Grozeva, Detelina; Raymond, F. Lucy; Perez-Duenas, Belen; De Goede, Christian; Pearson, Toni S.; Meyer, Esther; Kurian, Manju A.
The ethical framework for performing research with rare inherited neurometabolic disease patients

对罕见的遗传性神经代谢疾病患者进行研究的伦理框架

EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2017-01-1613
OAAI
Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D'Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cortes-Saladelafont, Elisenda; Cazorla, Angels Garcia; Baric, Ivo; Cvitanovic-Sojat, Ljerka; Fumic, Ksenija; Dali, Christine I.; Bartoloni, Franco; Bonifazi, Fedele; Scarpa, Maurizio; Ceci, Adriana
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders (vol 10, 164, 2015)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2016-11-030
OAAI
Cassis, Linda; Cortes-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; Julieta Gonzalez, Maria; Ormazabal, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; Mar O'Callaghan, M.; Casado, Mercedes; Montero, Raquel; Meavilla-Olivas, Silvia; Artuch, Rafael; Baric, Ivo; Bartoloni, Franco; Bellettato, Cinzia Maria; Bonifazi, Fedele; Ceci, Adriana; Cvitanovic-Sojat, Ljerka; Dali, Christine I.; D'Avanzo, Francesca; Fumic, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Angels
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2015-12-3019
OAAI
Cassis, Linda; Cortes-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; Julieta Gonzalez, Maria; Ormazabal Herrero, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; Mar O'Callaghan, M.; Casado, Mercedes; Montero, Raquel; Meavilla Olivas, Silvia Maria; Artuch, Rafael; Baric, Ivo; Bartoloni, Franco; Maria Bellettato, Cinzia; Bonifazi, Fedele; Ceci, Adriana; Cvitanovic-Sojat, Ljerka; Dali, Christine I.; D'Avanzo, Francesca; Fumic, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Angels

研究方向

暂未获取到该数据
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
J
Judith Armstrong
H 指数:32论文数:151被引数:3,626
G
Gabriella Horváth
H 指数:27论文数:111被引数:3,121
T
Toni S. Pearson
H 指数:23论文数:72被引数:2,724
M
Manju A. Kurian
H 指数:64论文数:304被引数:1.4万
J
Jan Kulhánek
H 指数:10论文数:25被引数:371
O
Oya Kuseyri Hübschmann
H 指数:11论文数:28被引数:477
A
Aída Ormazábal
H 指数:32论文数:114被引数:2,711
K
Kathrin Jeltsch
H 指数:16论文数:70被引数:1,129