Pilar Rodríguez-Pombo

Centro de Biologia Molecular

H指数:27

被引数:2,170

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Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling

使用长读测序和转录组分析扩展遗传代谢疾病的遗传景观

European Journal of Human Genetics

IF4.6

2026-01-260

OAAI

An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

NATURE METABOLISM

IF20.8

2024-01-199

OAAI

Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

雷格列酮的线粒体调节可作为Rett综合征的潜在治疗方法

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2023-10-266

OAAI

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

BCKDK缺乏症: 一种可治疗的神经发育疾病，适合新生儿筛查

BRAIN

IF11.7

2023-02-028

PRE

Tangeraas, Trine; Constante, Juliana R.; Backe, Paul Hoff; Oyarzabal, Alfonso; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, Francois G.; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodriguez-Pombo, Pilar; Al-Sannaa, Nouriya; de los Santos, Mariela; Muchart Lopez, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Morkrid, Lars; Garcia-Cazorla, Angeles

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

HUMAN MOLECULAR GENETICS

IF3.2

2022-10-038

OAAI

Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A.; Farris, Joseph; Ostergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas, V; Magistrati, Martina; Spector, Elaine B.; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G.; Feichtinger, Rene G.; Achleitner, Melanie T.; Merritt, J. Lawrence; Perez, Belen; Ugarte, Magdalena; Grunewald, Stephanie; Riela, Anthony R.; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, Rene; Lund, Allan M.; Mayr, Johannes A.; Rodriguez-Pombo, Pilar; Van Hove, Johan L. K.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-06-212

OAAI

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

JOURNAL OF CLINICAL MEDICINE

IF2.9

2019-11-0114

OAAI

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-01-0924

Navarrete, Rosa; Leal, Fatima; Vega, Ana, I; Morais-Lopez, Ana; Teresa Garcia-Silva, Maria; Martin-Hernandez, Elena; Quijada-Fraile, Pilar; Bergua, Ana; Vives, Inmaculada; Garcia-Jimenez, Inmaculada; Yahyaoui, Raquel; Pedron-Giner, Consuelo; Belanger-Quintana, Amaya; Stanescu, Sinziana; Canedo, Elvira; Garcia-Campos, Oscar; Bueno-Delgado, Maria; Delgado-Pecellin, Carmen; Vitoria, Isidro; Dolores Rausell, Maria; Balmaseda, Elena; Luz Couce, Mari; Desviat, Lourdes R.; Merinero, Begona; Rodriguez-Pombo, Pilar; Ugarte, Magdalena; Perez-Cerda, Celia; Perez, Belen

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT (vol 19, pg 104, 2017)

GENETICS IN MEDICINE

IF6.2

2018-09-011

OAAI

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-07-243

OAAI

Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

ANNALS OF NEUROLOGY