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Universidad Autónoma de Madrid: Madrid, Madrid, ES

Researcher (Biología Molecular)
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Universidad Autonoma de Madrid

Works (50 of 65)

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Page 1 of 2

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient

International Journal of Molecular Sciences
2024-02-28 | Journal article
Contributors: Laura Arribas-Carreira; Margarita Castro; Fernando García; Rosa Navarrete; Irene Bravo-Alonso; Francisco Zafra; Magdalena Ugarte; Eva Richard; Belén Pérez; Pilar Rodríguez-Pombo
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Crossref
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An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis

Nature Metabolism
2024-01-19 | Journal article
Contributors: Juan Cruz Herrero Martín; Beñat Salegi Ansa; Gerardo Álvarez-Rivera; Sonia Domínguez-Zorita; Pilar Rodríguez-Pombo; Belén Pérez; Enrique Calvo; Alberto Paradela; David G. Miguez; Alejandro Cifuentes et al.
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Crossref

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Journal of Inherited Metabolic Disease
2023-01-02 | Journal article
Part of ISSN: 0141-8955
Part of ISSN: 1573-2665
Contributors: Irene Bravo‐Alonso; Matías Morin; Laura Arribas‐Carreira; Mar Álvarez; Consuelo Pedrón‐Giner; Lucia Soletto; Carlos Santolaria; Santiago Ramón‐Maiques; Magdalena Ugarte; Pilar Rodríguez‐Pombo et al.
Source: Self-asserted source
Pilar Rodriguez Pombo

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Clinical Genetics
2022 | Journal article
EID:

2-s2.0-85129996841

Part of ISSN: 13990004 00099163
Contributors: Luque, J.; Mendes, I.; Gómez, B.; Morte, B.; López de Heredia, M.; Herreras, E.; Corrochano, V.; Bueren, J.; Gallano, P.; Artuch, R. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning

Biochimica et Biophysica Acta - Molecular Basis of Disease
2022 | Journal article
EID:

2-s2.0-85130913743

Part of ISSN: 1879260X 09254439
Contributors: Briso-Montiano, Á.; Vilas, A.; Richard, E.; Ruiz-Sala, P.; Morato, E.; Desviat, L.R.; Ugarte, M.; Rodríguez-Pombo, P.; Pérez, B.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

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

Orphanet Journal of Rare Diseases
2022 | Journal article
EID:

2-s2.0-85132305860

Part of ISSN: 17501172
Contributors: Stanescu, S.; Bravo-Alonso, I.; Belanger-Quintana, A.; Pérez, B.; Medina-Diaz, M.; Ruiz-Sala, P.; Flores, N.P.; Buenache, R.; Arrieta, F.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

International Journal of Molecular Sciences
2022-10 | Journal article | Author
Contributors: Alejandro Soriano-Sexto; Diana Gallego; Fátima Leal; Natalia Castejón-Fernández; Rosa Navarrete; Patricia Alcaide; Maria Luz Couce; Elena Martín-Hernández; PILAR QUIJADA-FRAILE; Luis Peña-Quintana et al.
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Multidisciplinary Digital Publishing Institute
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Pathogenic variants in <i>GCSH</i> encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

Human Molecular Genetics
2022-10-03 | Journal article
Part of ISSN: 0964-6906
Part of ISSN: 1460-2083
Contributors: Laura Arribas-Carreira; Cristina Dallabona; Michael A Swanson; Joseph Farris; Elsebet Østergaard; Konstantinos Tsiakas; Maja Hempel; Cecile Aquaviva-Bourdain; Stefanos Koutsoukos; Nicholas V Stence et al.
Source: Self-asserted source
Pilar Rodriguez Pombo

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

Journal of Inherited Metabolic Disease
2019 | Journal article
EID:

2-s2.0-85069924401

Part of ISSN: 15732665 01418955
Contributors: Knerr, I.; Colombo, R.; Urquhart, J.; Morais, A.; Merinero, B.; Oyarzabal, A.; Pérez, B.; Jones, S.A.; Perveen, R.; Preece, M.A. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

Stem Cell Research
2019 | Journal article
EID:

2-s2.0-85069640683

Part of ISSN: 18767753 18735061
Contributors: Arribas-Carreira, L.; Bravo-Alonso, I.; López-Márquez, A.; Alonso-Barroso, E.; Briso-Montiano, Á.; Arroyo, I.; Ugarte, M.; Pérez, B.; Pérez-Cerdá, C.; Rodríguez-Pombo, P. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

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

European Journal of Human Genetics
2019 | Journal article
EID:

2-s2.0-85060363428

Part of ISSN: 14765438 10184813
Contributors: Navarrete, R.; Leal, F.; Vega, A.I.; Morais-López, A.; Garcia-Silva, M.T.; Martín-Hernández, E.; Quijada-Fraile, P.; Bergua, A.; Vives, I.; García-Jiménez, I. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

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

Journal of Clinical Medicine
2019-11 | Journal article | Author
Contributors: Irene Bravo-Alonso; Rosa Navarrete; Ana Isabel Vega; Pedro Ruíz-Sala; María Teresa García Silva; Elena Martín-Hernández; Pilar Quijada-Fraile; Amaya Belanger-Quintana; Sinziana Stanescu; María Bueno et al.
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Multidisciplinary Digital Publishing Institute
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Preferred source (of 2)‎

Altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria

Oxidative Medicine and Cellular Longevity
2018 | Journal article
EID:

2-s2.0-85055157846

Part of ISSN: 19420994 19420900
Contributors: Richard, E.; Gallego-Villar, L.; Rivera-Barahona, A.; Oyarzábal, A.; Pérez, B.; Rodríguez-Pombo, P.; Desviat, L.R.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Correction to: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT (Genetics in Medicine, (2017), 19, 1, (104-111), 10.1038/gim.2016.74)

Genetics in Medicine
2018 | Journal article
EID:

2-s2.0-85053728956

Part of ISSN: 15300366 10983600
Contributors: Coughlin, C.R.; Swanson, M.A.; Kronquist, K.; Acquaviva, C.; Hutchin, T.; Rodríguez-Pombo, P.; Väisänen, M.-L.; Spector, E.; Creadon-Swindell, G.; Brás-Goldberg, A.M. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

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

Orphanet Journal of Rare Diseases
2018 | Journal article
EID:

2-s2.0-85050856466

Part of ISSN: 17501172
Contributors: Brasil, S.; Leal, F.; Vega, A.; Navarrete, R.; Ecay, M.J.; Desviat, L.R.; Riera, C.; Padilla, N.; De La Cruz, X.; Couce, M.L. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Neuropediatrics
2017 | Journal article
EID:

2-s2.0-85017438586

Part of ISSN: 14391899 0174304X
Contributors: Rice, G.I.; Kitabayashi, N.; Barth, M.; Briggs, T.A.; Burton, A.C.E.; Carpanelli, M.L.; Cerisola, A.M.; Colson, C.; Dale, R.C.; Danti, F.R. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Human Mutation
2017 | Journal article
EID:

2-s2.0-85017122419

Part of ISSN: 10981004 10597794
Contributors: Bravo-Alonso, I.; Navarrete, R.; Arribas-Carreira, L.; Perona, A.; Abia, D.; Couce, M.L.; García-Cazorla, A.; Morais, A.; Domingo, R.; Ramos, M.A. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Genetics in Medicine
2017 | Journal article
EID:

2-s2.0-85009188313

Part of ISSN: 15300366 10983600
Contributors: Coughlin, C.R.; Swanson, M.A.; Kronquist, K.; Acquaviva, C.; Hutchin, T.; Rodríguez-Pombo, P.; Väisänen, M.-L.; Spector, E.; Creadon-Swindell, G.; Brás-Goldberg, A.M. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Annals of Neurology
2017 | Journal article
EID:

2-s2.0-85028529858

Part of ISSN: 15318249 03645134
Contributors: Ortigoza-Escobar, J.D.; Alfadhel, M.; Molero-Luis, M.; Darin, N.; Spiegel, R.; de Coo, I.F.; Gerards, M.; Taylor, R.W.; Artuch, R.; Nashabat, M. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

Data in Brief
2016 | Journal article
EID:

2-s2.0-84961243746

Part of ISSN: 23523409
Contributors: Bravo-Alonso, I.; Oyarzabal, A.; Sánchez-Aragó, M.; Rejas, M.T.; Merinero, B.; García-Cazorla, A.; Artuch, R.; Ugarte, M.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

Brain
2016 | Journal article
EID:

2-s2.0-84963921613

Part of ISSN: 14602156 00068950
Contributors: Ortigoza-Escobar, J.D.; Molero-Luis, M.; Arias, A.; Oyarzabal, A.; Darín, N.; Serrano, M.; Garcia-Cazorla, A.; Tondo, M.; Hernandez, M.; Garcia-Villoria, J. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

Biochimica et Biophysica Acta - Molecular Basis of Disease
2016 | Journal article
EID:

2-s2.0-84958281100

Part of ISSN: 1879260X 09254439
Contributors: Oyarzabal, A.; Bravo-Alonso, I.; Sánchez-Aragó, M.; Rejas, M.T.; Merinero, B.; García-Cazorla, A.; Artuch, R.; Ugarte, M.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

Clinical Genetics
2016 | Journal article
EID:

2-s2.0-84983461398

Part of ISSN: 13990004 00099163
Contributors: Stojiljkovic, M.; Klaassen, K.; Djordjevic, M.; Sarajlija, A.; Brasil, S.; Kecman, B.; Grkovic, S.; Kostic, J.; Rodriguez-Pombo, P.; Desviat, L.R. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Genetics in Medicine
2016 | Journal article
EID:

2-s2.0-84989850292

Part of ISSN: 15300366 10983600
Contributors: Vega, A.I.; Medrano, C.; Navarrete, R.; Desviat, L.R.; Merinero, B.; Rodríguez-Pombo, P.; Vitoria, I.; Ugarte, M.; Pérez-Cerdá, C.; Pérez, B.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Ndufs4 related Leigh syndrome: A case report and review of the literature

Mitochondrion
2016 | Journal article
EID:

2-s2.0-84963904082

Part of ISSN: 18728278 15677249
Contributors: Ortigoza-Escobar, J.D.; Oyarzabal, A.; Montero, R.; Artuch, R.; Jou, C.; Jiménez, C.; Gort, L.; Briones, P.; Muchart, J.; López-Gallardo, E. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Treatment of genetic defects of thiamine transport and metabolism

Expert Review of Neurotherapeutics
2016 | Journal article
EID:

2-s2.0-84976412543

Part of ISSN: 17448360 14737175
Contributors: Ortigoza-Escobar, J.D.; Molero-Luis, M.; Arias, A.; Martí-Sánchez, L.; Rodriguez-Pombo, P.; Artuch, R.; Pérez-Dueñas, B.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Severe pulmonary hypertension: Initial manifestation of a new deficiency of the lipoic acid metabolism,Hipertensión pulmonar grave: forma de comienzo de un nuevo defecto del metabolismo del ácido lipoico

Medicina Clinica
2014 | Journal article
EID:

2-s2.0-84908372224

Part of ISSN: 15788989 00257753
Contributors: Lacasa Maseri, A.; Yun Castilla, C.; Mota Ybancos, J.L.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Thiamine transporter-2 deficiency: Outcome and treatment monitoring

Orphanet Journal of Rare Diseases
2014 | Journal article
EID:

2-s2.0-84902740958

Part of ISSN: 17501172
Contributors: Ortigoza-Escobar, J.D.; Serrano, M.; Molero, M.; Oyarzabal, A.; Rebollo, M.; Muchart, J.; Artuch, R.; Rodríguez-Pombo, P.; Pérez-Dueñas, B.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Human Mutation
2014 | Journal article
EID:

2-s2.0-84896137184

Part of ISSN: 10981004 10597794
Contributors: García-Cazorla, A.; Oyarzabal, A.; Fort, J.; Robles, C.; Castejón, E.; Ruiz-Sala, P.; Bodoy, S.; Merinero, B.; Lopez-Sala, A.; Dopazo, J. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Human Mutation
2013 | Journal article
EID:

2-s2.0-84873083880

Part of ISSN: 10597794 10981004
Contributors: Oyarzabal, A.; Martínez-Pardo, M.; Merinero, B.; Navarrete, R.; Desviat, L.R.; Ugarte, M.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease

Molecular Syndromology
2012 | Journal article
EID:

2-s2.0-84870842946

Part of ISSN: 16618769 16618777
Contributors: Pérez, B.; Rodríguez-Pombo, P.; Ugarte, M.; Desviat, L.R.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation

Journal of Inherited Metabolic Disease
2012 | Journal article
EID:

2-s2.0-84863305658

Part of ISSN: 01418955 15732665
Contributors: Manara, R.; Del Rizzo, M.; Burlina, A.P.; Bordugo, A.; Citton, V.; Rodriguez-Pombo, P.; Ugarte, M.; Burlina, A.B.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Defining the pathogenicity of creatine deficiency syndrome

Human Mutation
2011 | Journal article
EID:

2-s2.0-79951782379

Part of ISSN: 10597794 10981004
Contributors: Alcaide, P.; Merinero, B.; Ruiz-Sala, P.; Richard, E.; Navarrete, R.; Arias, A.; Ribes, A.; Artuch, R.; Campistol, J.; Ugarte, M. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

Developmental Medicine and Child Neurology
2010 | Journal article
EID:

2-s2.0-75349098607

Part of ISSN: 00121622 14698749
Contributors: Alcaide, P.; Rodriguez-Pombo, P.; Ruiz-Sala, P.; Ferrer, I.; Castro, P.; Ruiz Martin, Y.; Merinero, B.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Functional characterization of the novel intronic nucleotide change c.288+9C&gt;T within the BCKDHA gene: Understanding a variant presentation of maple syrup urine disease

Journal of Inherited Metabolic Disease
2010 | Journal article
EID:

2-s2.0-84897927499

Part of ISSN: 15732665 01418955
Contributors: Fernández-Guerra, P.; Navarrete, R.; Weisiger, K.; Desviat, L.R.; Packman, S.; Ugarte, M.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Journal of Inherited Metabolic Disease
2010 | Journal article
EID:

2-s2.0-77649235959

Part of ISSN: 01418955 15732665
Contributors: Sempere, A.; Arias, A.; Farré, G.; García-Villoria, J.; Rodríguez-Pombo, P.; Desviat, L.R.; Merinero, B.; García-Cazorla, A.; Vilaseca, M.A.; Ribes, A. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Journal of Inherited Metabolic Disease
2010 | Journal article
EID:

2-s2.0-79952199149

Part of ISSN: 15732665 01418955
Contributors: Pérez, B.; Angaroni, C.; Sánchez-Alcudia, R.; Merinero, B.; Pérez-Cerdá, C.; Specola, N.; Rodríguez-Pombo, P.; Wajner, M.; De Kremer, R.D.; Cornejo, V. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene,Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT

Medicina Clinica
2009 | Journal article
EID:

2-s2.0-70449524416

Part of ISSN: 00257753 15788989
Contributors: Sempere, A.; Fons, C.; Arias, A.; Rodríguez-Pombo, P.; Merinero, B.; Alcaide, P.; Capdevila, A.; Ribes, A.; Duque, R.; Eirís, J. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Creatine transporter deficiency in two adult patients with static encephalopathy

Journal of Inherited Metabolic Disease
2009 | Journal article
EID:

2-s2.0-84881010891

Part of ISSN: 15732665 01418955
Contributors: Sempere, A.; Fons, C.; Arias, A.; Rodríguez-Pombo, P.; Colomer, R.; Merinero, B.; Alcaide, P.; Capdevila, A.; Ribes, A.; Artuch, R. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Revisiting MSUD in Portuguese Gypsies: Evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene

Annals of Human Genetics
2009 | Journal article
EID:

2-s2.0-65449150929

Part of ISSN: 00034800 14691809
Contributors: Quental, S.; Gusmão, A.; Rodríguez-Pombo, P.; Ugarte, M.; Vilarinho, L.; Amorim, A.; Prata, M.J.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Mutational spectrum of maple syrup urine disease in Spain.

Human mutation
2006 | Journal article
EID:

2-s2.0-33746749546

Part of ISSN: 10981004
Contributors: Rodríguez-Pombo, P.; Navarrete, R.; Merinero, B.; Gómez-Puertas, P.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase

Biochimica et Biophysica Acta - Molecular Basis of Disease
2005 | Journal article
EID:

2-s2.0-20444417804

Part of ISSN: 09254439
Contributors: Rodríguez-Pombo, P.; Pérez-Cerdá, C.; Pérez, B.; Desviat, L.R.; Sánchez-Pulido, L.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Prenatal diagnosis of propionic acidemia

Prenatal Diagnosis
2004 | Journal article
EID:

2-s2.0-10844235559

Part of ISSN: 01973851
Contributors: Pérez-Cerdá, C.; Pérez, B.; Merinero, B.; Desviat, L.R.; Rodríguez Pombo, P.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Propionic acidemia: Mutation update and functional and structural effects of the variant alleles

Molecular Genetics and Metabolism
2004 | Journal article
EID:

2-s2.0-4744348392

Part of ISSN: 10967192
Contributors: Desviat, L.R.; Pérez, B.; Pérez-Cerdá, C.; Rodríguez-Pombo, P.; Clavero, S.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria

Molecular Genetics and Metabolism
2003 | Journal article
EID:

2-s2.0-0142247212

Part of ISSN: 10967192
Contributors: Desviat, L.R.; Pérez-Cerdá, C.; Pérez, B.; Esparza-Gordillo, J.; Rodríguez-Pombo, P.; Peñalva, M.A.; Rodríguez De Córdoba, S.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts

Biochimica et Biophysica Acta - Molecular Basis of Disease
2003 | Journal article
EID:

2-s2.0-1842613237

Part of ISSN: 09254439
Contributors: Pérez-Cerdá, C.; Clavero, S.; Pérez, B.; Rodríguez-Pombo, P.; Desviat, L.R.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Propionic acidemia: Identification of twenty-four novel mutations in Europe and North America

Molecular Genetics and Metabolism
2003 | Journal article
EID:

2-s2.0-0037288237

Part of ISSN: 10967192
Contributors: Pérez, B.; Desviat, L.R.; Rodríguez-Pombo, P.; Clavero, S.; Navarrete, R.; Perez-Cerdá, C.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits

Molecular Genetics and Metabolism
2002 | Journal article
EID:

2-s2.0-0036351122

Part of ISSN: 10967192
Contributors: Rodriguez-Pombo, P.; Pérez-Cerdá, C.; Desviat, L.R.; Pérez, B.; Ugarte, M.; Rodríguez-Pombo, P.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase

Molecular Genetics and Metabolism
2001 | Journal article
EID:

2-s2.0-0035694455

Part of ISSN: 10967192
Contributors: Muro, S.; Pérez, B.; Desviat, L.R.; Rodríguez-Pombo, P.; Pérez-Cerdá, C.; Clavero, S.; Ugarte, M.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

American Journal of Human Genetics
2001 | Journal article
EID:

2-s2.0-0035133319

Part of ISSN: 00029297
Contributors: Gallardo, M.E.; Desviat, L.R.; Rodríguez, J.M.; Esparza-Gordillo, J.; Pérez-Cerdà, C.; Pérez, B.; Rodríguez-Pombo, P.; Criado, O.; Sanz, R.; Morton, D.H. et al.
Source: Self-asserted source
Pilar Rodriguez Pombo via Scopus - Elsevier
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