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Trastornos congénitos del metabolismo

Líneas de investigación

Desde una aproximación clínica, bioquímica y molecular/genética el grupo trabaja de forma consolidada en la caracterización de la etiopatogenia, en la epidemiología y en la búsqueda de nuevas estrategias diagnósticas y terapéuticas con una visión de traslación del avance científico al paciente en los trastornos congénitos del metabolismo. El diagnóstico de las enfermedades raras es un desafío y para su manejo es fundamental tanto un diagnóstico como un tratamiento de precisión. Desde el grupo de investigación se está participando en diferentes ensayos clínicos en el campo de las enfermedades metabólicas hereditarias. El grupo también participa en la publicación de capítulos de libros, guías en enfermedades minoritarias.

Entre las líneas de investigación actuales, las principales actividades del grupo incluyen::

  • Acelerar el diagnóstico y permitir el manejo personalizado de las enfermedades metabólicas hereditarias.
  • Diagnóstico y comprensión de mecanismos fisiopatológicos de enfermedades metabólicas hereditarias ultra-raras.
  • Estudios de pronóstico e historia natural de enfermedades metabólicas hereditarias.

Desde el grupo se participa en diferentes REDES INTERNACIONALES:

  1. METAB-European Reference Network (ERN): MetabERN es una de las 24 European Reference Networks financiadas por la Comisión Europea y la primera y única Red pan-metabólica centrada en el paciente, compuesta por 101 hospitales en 27 Estados miembros de la UE. La reducción del tiempo de diagnóstico, el desarrollo de nuevas terapias, la mejora de la calidad de vida de los pacientes, la innovación en la investigación metabólica y la educación metabólica de las nuevas generaciones médicas son algunas de las prioridades de MetabERN.
  2. E-HOD: Red Europea y Registro de Homocistinurias y Defectos de Metilación financiados por la Unión Europea (E-HOD; acuerdo CHAFEA n.º 2012 12 02). Fundado en 2013, el registro E-HOD abarca hoy datos longitudinales de más de 700 pacientes afectados por homocistinurias o defectos de metilación.
  3. U-IMD: Registro Unificado de Enfermedades Metabólicas Hereditarias financiado por U europea (U-IMD; acuerdo CHAFEA n.º 777259). Fundado en 2018 como el registro oficial de MetabERN, el registro U-IMD proporciona hoy datos longitudinales de más de 2600 pacientes afectados por enfermedades metabólicas hereditarias.

Además, el grupo engloba otra línea de investigación independiente, el Laboratorio de trastornos metabólicos hepáticos centrado en el estudio de la reprogramación metabólica y desregulación del metabolismo energético en enfermedades hepáticas, tales como la enfermedad metabólica hepática y el cáncer hepático. Las principales actividades engloban:

  • Desentrañar las alteraciones del metabolismo de nitrógeno en la patogénesis del cáncer hepático.
  • Búsqueda de marcadores de senescencia en el contexto de la enfermedad hepática metabólica.
Foto grupo

Coordinador/a del grupo



Miembros del grupo

  Arantzazu Arza Ruesga
 
 
  Leticia Ceberio Hualde
 
 
  Gorka de Frutos Muñoyerro
 
 
  Nuria López Osle
 
 
  María Unceta Suárez
 

Laboratorio de enfermedades hepáticas metabólicas



Miembros del Laboratorio de enfermedades hepáticas metabólicas

  Leire Uraga Gracianteparaluceta
 
 

Publicaciones del grupo

Cano A, Alcalde C, Belanger Quintana A, Canedo Villarroya E, Ceberio L, Chumillas Calzada S, et al. Vitamin C and folate status in hereditary fructose intolerance (vol 76, pg 1733, 2022). Eur J Clin Nutr. 2023. DOI:10.1038/s41430-023-01334-3.

Alcaide P, Ferrer Lopez I, Gutierrez L, Leal F, Martin Hernandez E, Quijada Fraile P, et al. Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases. J Clin Med. 2022; 11(10). DOI:10.3390/jcm11102933.

Ruiz Lopez M, Estebanez M, Tijero B, Fernandez T, Rebollo Perez A, Gabilondo I, et al. Pearls and Oy-sters: Challenges and Controversies in Wilson Disease. Neurology. 2022; 99(6): 251-255. DOI:10.1212/WNL.0000000000200836.

Cano A, Alcalde C, Belanger Quintana A, Canedo Villarroya E, Ceberio L, Chumillas Calzada S, et al. Vitamin C and folate status in hereditary fructose intolerance. Eur J Clin Nutr. 2022; 76(12): 1733-1739. DOI:10.1038/s41430-022-01178-3.

del Castillo FJ, Munoz G, Dominguez Ruiz M, Ciubotariu C, Piris Villaespesa M, Ley M, et al. NGS-based panel screening of suspected lysosomal disease cases identifies novel pathogenic variants underlying acid sphingomyelinase deficiency (ASMD), Krabbe disease, and lymphatic dysplasia with non-immune hydrops fetalis. Mol Genet Metab. 2022; 135(2): 36-36. DOI:10.1016/j.ymgme.2021.11.079.

del Castillo FJ, Munoz G, Gandia M, Ciubotariu C, Garcia Seisdedos D, Piris Villaespesa M, et al. Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels. Mol Genet Metab. 2022; 135(2): 36-36. DOI:10.1016/j.ymgme.2021.11.080.

Villarrubia J, Munoz G, Ciubotariu C, Dominguez Ruiz M, Piris Villaespesa M, Unceta M, et al. Adult acid sphingomyelinase deficiency (Niemann-Pick disease type B): A difficult pathway to a diagnosis in 4 novel cases. Mol Genet Metab. 2022; 135(2): 125-125. DOI:10.1016/j.ymgme.2021.11.332.

Martin Hernandez E, Quijada Fraile P, Correcher P, Meavilla S, Sanchez Pintos P, de las Heras Montero J, et al. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain. J Clin Med. 2022; 11(17). DOI:10.3390/jcm11175045.

Harding CO, Geberhiwot T, Couce ML, Tan W, Khan A, Hualde LC, et al. Safety and Efficacy of DTX301 in Adults with Late-Onset Ornithine Transcarbamylase (OTC) Deficiency: A Phase 1/2 Trial. Mol Ther. 2022; 30(4): 219-219

Delgado TC, de las Heras J, Martinez Chantar ML. Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease. Front Endocrinol. 2022; 13. DOI:10.3389/fendo.2022.1058101.

Dafne Cabanero Navalon M, Garcia Bustos V, Nunez Beltran M, Ciscar Fernandez P, Mateu L, Solanich X, et al. Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry. Front Immunol. 2022; 13. DOI:10.3389/fimmu.2022.1033666.

Sala Coromina J, Miguel LD, de las Heras J, Lasa Aranzasti A, Garcia Arumi E, Carreno L et al. Leigh syndrome associated with TRMU gene mutations. Molec Genet Metab Rep. 2021; 26: 100690-100690. DOI:10.1016/j.ymgmr.2020.100690.

Torices L, de las Heras J, Arango Lasprilla JC, Cortes JM, Nunes Xavier CE, Pulido R. MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution. Molec Genet Metab Rep. 2021; 26: 100710-100710. DOI:10.1016/j.ymgmr.2021.100710.

Gonzalez Lamuno Leguina D, Boveda Fontan MD, Bueno Delgado M, Gort Mas L, Unceta Suarez M, Morales Conejo M. The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM). Rev Esp Salud Publica. 2021; 95

Gonzalez Lamuno Leguina D, Boveda Fontan MD, Bueno Delgado M, Gort Mas L, Unceta Suarez M, Morales Conejo M. [The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).]. Rev Esp Salud Publica. 2021; 95

Cano A, Alcalde C, Belanger Quintana A, Canedo Villarroya E, Ceberio L, Chumillas Calzada S et al. Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance. J Clin Med. 2021; 10(13). DOI:10.3390/jcm10132932.

Andrade F, Cano A, Suarez MU, Arza A, Vinuesa A, Ceberio L et al. Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia. J Clin Med. 2021; 10(16). DOI:10.3390/jcm10163674.

Madariaga L, Gomez Conde S, Garcia Castano A, Aguirre M, Herrero M, Gondra L et al. LONG-TERM OUTCOME OF A SERIES OF PATIENTS WITH PRIMARY DISTAL RENAL TUBULAR ACIDOSIS. Pediatr Nephrol. 2021; 36(10): 3367-3367

Maritxalar AI, Pejenaute IS, Anakabe EL, Goni MH, Dominguez LM, Varela MA et al. SECONDARY IMMUNOSUPPRESSION IN PEDIATRIC KIDNEY TRANSPLANT RECIPIENTS. Pediatr Nephrol. 2021; 36(10): 3460-3461

Maritxalar AI, Goni MH, Dominguez LM, Sangroniz LG, Menica MA, Castano AG et al. OUTCOME OF A COHORT OF PATIENTS WITH DENT DISEASE. Pediatr Nephrol. 2021; 36(10): 3312-3312

Sangroniz LG, Dominguez LM, Castano AG, Goni MH, Menica MA, Jaca AV et al. LONG-TERM FOLLOW-UP OF PATIENTS WITH BARTTER SYNDROME TYPE III. Pediatr Nephrol. 2021; 36(10): 3302-3303

Perez NG, Irigaray MG, Sangroniz LG, Goni MH, Dominguez LM, Menica MA et al. GROSS HEMATURIA IN PATIENTS OF AFRICAN ORIGIN, WHAT SHOULD WE THINK ABOUT?. Pediatr Nephrol. 2021; 36(10): 3488-3488

Goni MH, Sangroniz LG, Menica MA, Jaca AV, Dominguez LM, De Larrinoa AF et al. DE NOVO THROMBOTIC MICROANGIOPATHY AFTER KIDNEY TRANSPLANTATION IN A PEDIATRIC PATIENT. Pediatr Nephrol. 2021; 36(10): 3462-3462

Jaca AV, Menica MA, Hermosa MRG, Sangroniz LG, Goni MH, Dominguez LM et al. SKIN LESIONS IN KIDNEY TRASPLANT RECIPIENT. Pediatr Nephrol. 2021; 36(10): 3347-3347

de las Heras J, Cano A, Vinuesa A, Montes M, Unceta Suarez M, Arza A et al. Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience. Children (Basel). 2021; 8(11). DOI:10.3390/children8111026.

Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P et al. Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome. N Engl J Med. 2021; 385(21): 1929-1940. DOI:10.1056/NEJMoa2106596.

Van Wegberg A, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS et al. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey. J Pediatr. 2021; 239. DOI:10.1016/j.jpeds.2021.08.070.

Astigarraga I, De Heras J, Perez Estevez E, Lopez Bayon J, Garcia Obregon S, Aldamiz Echevarria L. LONG TERM SURVIVAL AFTER EARLY ONSET LYSOSOMAL ACID LIPASE DEFICIENCY PRESENTING AS HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS AND BENEFIT OF ENZYMATIC REPLACEMENT TREATMENT WITH SEBELIPASE ALFA IN 2 PATIENTS. Pediatr Blood Cancer. 2020; 67: 2-3

Aldámiz Echevarría L, de Las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, et al. Non-alcoholic fatty liver in hereditary fructose intolerance. Clin Nutr. 2020; 39(2): 455-459. DOI:10.1016/j.clnu.2019.02.019.

Matorras R, Exposito A, Ferrando M, Mendoza R, Larreategui Z, Laínz L, et al. Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight. Fertil Steril. 2020; 113(1): 53-61. DOI:10.1016/j.fertnstert.2019.08.059.

López de Frutos L, Cebolla JJ, Aldámiz Echevarría L, de la Vega Á, Stanescu S, Lahoz C, et al. New variants in Spanish Niemann-Pick type c disease patients. Mol Biol Rep. 2020; 47(3): 2085-2095. DOI:10.1007/s11033-020-05308-7.

Cechova A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, et al. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. J Inherit Metab Dis. 2020; 43(4): 671-693. DOI:10.1002/jimd.12241.

Sabir E, Lafhal K, Ezoubeiri A, Harkati I, Sbyea S, Aldamiz Echevarria L, et al. Usefulness of urinary glycosaminoglycans assay for an MPS specific screening. Pediatr Int. 2020; 62(9): 1077-1085. DOI:10.1111/ped.14278.

Gonzalez Lamuno D, Irastorza I, Andrade F, Aldamiz Echevarria L. Vacuolated lymphocytes of blood smears in the diagnoses of lysosomal disorders. Mol Genet Metab. 2020; 129(2): 66-66. DOI:10.1016/j.ymgme.2019.11.154.

Gonzalez Lamuno D, Irastorza I, Andrade F, Gutierrez Larranaga M, San Segundo D, Aldamiz Echevarria L. Expression levels of the mono carboxylate transporter MCT1 in erythrocytes from patients with Fabry disease and predominant hypertrophic myocardiopathy. Mol Genet Metab. 2020; 129(2): 65-66. DOI:10.1016/j.ymgme.2019.11.153.

Heard J, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M, et al. Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network. Orphanet J Rare Dis. 2020; 15(1). DOI:10.1186/s13023-019-1280-5.

de las Heras J, Diez I, Jimenez Marin A, Cabrera A, Ramos Usuga D, Diaz Fernandez MV, et al. Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder. J Clin Med. 2020; 9(4). DOI:10.3390/jcm9040990.

Fdil N, Sabir E, Ezoubeiri A, Elqadiry R, Daoudi A, Lalaoui A, et al. Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco. Clin Lab. 2020; 66(3): 391-399. DOI:10.7754/Clin.Lab.2019.190720.

Tan WH, Geberhiwot T, Couce ML, Aldamiz Echevarria L, Diaz GA, Harding CO, et al. AAV8 Gene Therapy as a Potential Treatment in Adults with Late-Onset OTC Deficiency: Results from a Phase 1/2 Clinical Trial. Mol Ther. 2020; 28(4): 222-222

Marti Sanchez L, Baide Mairena H, Marce Grau A, Pons R, Skouma A, Lopez Laso E, et al. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. J Inherit Metab Dis. 2020; 44(2): 401-414. DOI:10.1002/jimd.12288.

Habbane M, Llobet L, Bayona Bafaluy MP, Barcena JE, Ceberio L, Gomez Diaz C, et al. Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA. Genes. 2020; 11(9). DOI:10.3390/genes11091007.

Ugarteburu O, Teresa Garcia Silva M, Aldamiz Echevarria L, Gort L, Garcia Villoria J, Tort F, et al. Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia. Mitochondrion. 2020; 55: 78-84. DOI:10.1016/j.mito.2020.09.003.

Ruiz Osle S, Crespo Atin V. [Occupied ureterocele and incomplete double collecting system.]. Arch Esp Urol. 2020; 73(7): 659-660

Aldamiz Echevarria L, Villate O. Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?. Clin Nutr. 2019; 38(4): 1962-1962. DOI:10.1016/j.clnu.2019.04.026.

Andrade F, Villate O, Couce ML, Bueno MA, Alcalde C, de las Heras J, et al. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria. Eur J Pediatr. 2019; 178(6): 903-911. DOI:10.1007/s00431-019-03365-0.

Yahyaoui R, Blasco Alonso J, Benito C, Rodriguez Garcia E, Andrade F, Aldamiz Echevarria L, et al. A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening. J Inherit Metab Dis. 2019; 42(3): 407-413. DOI:10.1002/jimd.12063.

Muntau AC, Adams DJ, Belanger Quintana A, Bushueva TV, Cerone R, Chien Y, et al. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Mol Genet Metab. 2019; 127(1): 1-11. DOI:10.1016/j.ymgme.2019.04.004.

Harding CO, Geberhiwot T, Aldamiz Echevarria L, Luz Couce M, Khan A, Tan W, et al. A PHASE 1/2 CLINICAL TRIAL FOR AAV8-MEDIATED LIVER-DIRECTED GENE THERAPY IN ADULTS WITH LATE-ONSET OTC DEFICIENCY: INTERIM RESULTS FROM COHORT 1. Mol Genet Metab. 2019; 127(3): 240-240

Harding CO, Geberhiwot T, Aldamiz Echevarria L, Luz Couce M, Khan A, Tan W, et al. A PHASE 1/2 CLINICAL TRIAL FOR AAV8-MEDIATED LIVER-DIRECTED GENE THERAPY IN ADULTS WITH LATE-ONSET OTC DEFICIENCY: INTERIM RESULTS FROM COHORT 1. Mol Genet Metab. 2019; 126(3): 278-278

Cebolla JJ, Irun P, Lahoz C, Garcia Jimenez I, Gil Ortega D, Quintero Bernabeu J, et al. Assessment of plasma 7-ketocholesterol concentration, chitotriosidase activity and CCL18/PARC concentration in Spanish patients treated with human recombinant lisosomal add lipase. Mol Genet Metab. 2019; 126(2): 36-37. DOI:10.1016/j.ymgme.2018.12.073.

Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, Garcia Cazorla A, Martinez Pardo Casanova M, et al. Betaine anhydrous in homocystinuria: results from the RoCH registry. Orphanet J Rare Dis. 2019; 14. DOI:10.1186/s13023-019-1036-2.

Diaz GA, Harding CO, Geberhiwot T, Aldamiz Echevarria L, Luz Couce M, Khan A, et al. Preliminary Results from Cohorts 1 and 2 of CAPtivate: A Phase 1/2 Clinical Trial of AAV8-Mediated Liver-Directed Gene Therapy in Adults with Late-Onset OTC Deficiency. Mol Ther. 2019; 27: 2-3

Andrade F, Vitoria I, Martin Hernandez E, Pintos Morell G, Correcher P, Puig Pina R, et al. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders. J Pharm Biomed Anal. 2019; 176: 112798-112798. DOI:10.1016/j.jpba.2019.112798.

Ceberio L, Hermida A, Venegas E, Arrieta F, Morales M, Forga M, et al. Phenylketonuria in the adult patient. Exp Opin Orphan Drugs. 2019; 7(6): 265-276. DOI:10.1080/21678707.2019.1633914.

Luz Couce M, Sanchez Pintos P, Aldamiz Echevarria L, Vitoria I, Navas V, Martin Hernandez E, et al. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain. Medicine (Baltimore). 2019; 98(39). DOI:10.1097/MD.0000000000017303.

Geberhiwot T, Aldamiz Echevarria L, Couce ML, Diaz GA, Harding CO, Khan A, et al. A phase 1/2 clinical trial of AAV8 gene therapy in adults with late-onset OTC deficiency: CAPtivate cohort 1+2 results. Hum Gene Ther. 2019; 30(11): 18-18

Benito S, Sánchez Ortega A, Unceta N, Jansen JJ, Postma G, Andrade F, et al. Plasma biomarker discovery for early chronic kidney disease diagnosis based on chemometric approaches using LC-QTOF targeted metabolomics data. J Pharm Biomed Anal. 2018; 149: 46-56. DOI:10.1016/j.jpba.2017.10.036.

de Las Heras J, Aldámiz Echevarría L, Cabrera A. Frontoparietal subdural hematoma in a child with mental regression. JAMA Neurol. 2018; 75(6): 759-760. DOI:10.1001/jamaneurol.2018.0139.

Aldamiz Echevarria K, Diez Lopez I, Arranz L, Garcia Barcina MJ. Population Screening of Hypophosphatasia. A Metabolopathy to Consider. National Multicentric Study. Horm Res Paediatr. 2018; 90: 374-375

Couce ML, Sanchez Pintos P, Vitoria I, De Castro MJ, Aldamiz Echevarria L, Correcher P, et al. Carbohydrate status in patients with phenylketonuria. Orphanet J Rare Dis. 2018; 13. DOI:10.1186/s13023-018-0847-x.

Jones SA, AlSayed M, Broomfield AA, White F, Roberts J, Vijay S, et al. Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD). Mol Genet Metab. 2018; 123(2): 72-73. DOI:10.1016/j.ymgme.2017.12.180.

Aldamiz Echevarria L, Couce ML, Villate O, Fernandez Marmiesse A, Pinan MA. New CTSA mutation in early infantile galactosialidosis. Pediatr Int. 2018; 60(8): 761-762. DOI:10.1111/ped.13604.

Benito S, Sanchez Ortega A, Unceta N, Andrade F, Aldamiz Echevarria L, Goicolea MA, et al. Untargeted metabolomics for plasma biomarker discovery for early chronic kidney disease diagnosis in pediatric patients using LC-QTOF-MS. Analyst. 2018; 143(18): 4448-4458. DOI:10.1039/c8an00864g.

Geberhiwot T, Aldamiz Echevarria L, Couce ML, Harding CO, Khan A, Tan WH, et al. A phase 1/2 clinical trial for AAV8-mediated liver-directed gene therapy in adults with late-onset OTC deficiency. Hum Gene Ther. 2018; 29(12): 59-59

Ghosh A, Aleck K, Arvonen M, Broomfield A, Fecarotta S, Gargus JJ, et al. Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD). Mol Genet Metab. 2018; 123(2): 51-51. DOI:10.1016/j.ymgme.2017.12.120.

Nava Mateos JJ, Roiz Rey P, Alvarez Mediavilla JD, Cebrian Novella D, Gomez Del Olmo V, Ceberio Hualde L. Treatment of valproic acid-induced encephalopathy with carbalagenic acid Reply. Rev Neurologia. 2018; 66(4): 136-136. DOI:10.33588/rn.6604.2017513.

Vieitez I, Souto Rodriguez O, Fernandez Mosquera L, San Millan B, Teijeira S, Fernandez Martin J, et al. Fabry disease in the Spanish population: observational study with detection of 77 patients. Orphanet J Rare Dis. 2018; 13. DOI:10.1186/s13023-018-0792-8.

Perez Lopez J, Molto Abad M, Munoz Delgado C, Morales Conejo M, Ceberio Hualde L, del Toro M. Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature. Mol Genet Metab. 2018; 124(3): 216-227. DOI:10.1016/j.ymgme.2018.04.013.

Urisarri A, Gil M, Mandia N, Aldamiz Echevarria L, Iria R, Gonzalez Lamuno D, et al. Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening. Medicine (Baltimore). 2018; 97(32). DOI:10.1097/MD.0000000000011819.

De Las Heras J, Aldámiz Echevarría L, Martínez Chantar ML, Delgado TC. An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease. Expert Opin Drug Metab Toxicol. 2017; 13(4): 439-448. DOI:10.1080/17425255.2017.1262843.

Couce ML, Aldamiz Echevarría L, Bueno MA, Barros P, Belanger Quintana A, Blasco J, et al. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. J Hum Genet. 2017; 62(3): 355-360. DOI:10.1038/jhg.2016.144.

Camarena C, Aldamiz Echevarria LJ, Polo B, Barba Romero MA, García I, Cebolla JJ, et al. Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management. Med Clin. 2017; 148(9). DOI:10.1016/j.medcli.2016.12.044.

Pérez López J, Ceberio Hualde L, García Morillo JS, Grau Junyent JM, Hermida Ameijeiras A, López Rodríguez M, et al. Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals. Molec Genet Metab Rep. 2017; 10: 92-95. DOI:10.1016/j.ymgmr.2017.01.011.

Segundo U, Aldamiz Echevarria L, Lopez Cuadrado J, Buenestado D, Andrade F, Perez TA, et al. Improvement of newborn screening using a fuzzy inference system. Expert Syst Appl. 2017; 78: 301-318. DOI:10.1016/j.eswa.2017.02.022.

Andrade F, Lopez Suarez O, Llarena M, Couce ML, Aldamiz Echevarria L. Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle. Medicine (Baltimore). 2017; 96(27). DOI:10.1097/MD.0000000000007392.

Gutierrez Juan V, de Davalillo SL, Fernandez Ramos D, Barbier Torres L, Zubiete Franco I, Fernandez Tussy P, et al. A morphological method for ammonia detection in liver. PLoS One. 2017; 12(3). DOI:10.1371/journal.pone.0173914.

Pena Quintana L, Llarena M, Reyes Suarez D, Aldamiz Echevarria L. Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives. Patient Prefer Adherence. 2017; 11: 1489-1496. DOI:10.2147/PPA.S136754.

Batllori M, Molero Luis M, Arrabal L, Heras JD, Fernandez Ramos JA, Gutierrez Solana LG, et al. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. Sci Rep. 2017; 7. DOI:10.1038/s41598-017-15063-8.

Perez Lopez J, Ceberio Hualde L, Garcia Morino JS, Grau Junyent JM, Hermida Ameijeiras A, Lopez Rodriguez M, et al. Clinical characteristics of patients with lysosomal diseases in a Spanish cohort of 499 adult patients with inborn errors of metabolism from university hospitals. Mol Genet Metab. 2017; 120(1-2): 106-107. DOI:10.1016/j.ymgme.2016.11.271.

Nava Mateos JJ, Roiz Rey P, Alvarez Mediavilla JD, Cebrian Novella D, Gomez Del Olmo V, Ceberio Hualde L. Treatment of encephalopathy by means of valproic acid with carglumic acid: two case reports and a review of the literature. Rev Neurologia. 2017; 65(9): 409-414. DOI:10.33588/rn.6509.2017226.

Gil Campos M, Blasco Alonso J, Sierra Córcoles C, Cuevas Cervera JL, Arrabal Fernández L, Aldámiz Echevarría L, et al. Estudio multicéntrico español: niños con hiperamoniemia no asociada a errores innatos del metabolismo. Nutr Hosp. 2017; 34(4): 814-819

Zubiete Franco I, Garcia Rodriguez JL, Martinez Una M, Martinez Lopez N, Woodhoo A, Gutierrez De Juan V, et al. Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis. J Hepatol. 2016; 64(2): 409-418. DOI:10.1016/j.jhep.2015.08.037.

Couce ML, Vitoria I, Aldamiz Echevarria L, Fernandez Marmiesse A, Roca I, Llarena M, et al. Lipid profile status and other related factors in patients with Hyperphenylalaninaemia. Orphanet J Rare Dis. 2016; 11(1): 123-123. DOI:10.1186/s13023-016-0508-x.

Llarena M, Andrade F, Hasnaoui M, Portillo MP, Perez Matute P, Arbones Mainar JM, et al. Potential renoprotective effects of piceatannol in ameliorating the early-stage nephropathy associated with obesity in obese Zucker rats. J Physiol Biochem. 2016; 72(3): 555-566. DOI:10.1007/s13105-015-0457-1.

Hijona E, Aguirre L, Perez Matute P, Villanueva Millan MJ, Mosqueda Solis A, Hasnaoui M, et al. Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects. J Physiol Biochem. 2016; 72(3): 567-582. DOI:10.1007/s13105-015-0464-2.

Aldamiz Echevarria L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernandez Marmiesse A, et al. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. J Hum Genet. 2016; 61(8): 731-744. DOI:10.1038/jhg.2016.38.

Benito S, Sanchez A, Unceta N, Andrade F, Aldamiz Echevarria L, Aranzazu Goicolea M, et al. LC-QTOF-MS-based targeted metabolomics of arginine-creatine metabolic pathway-related compounds in plasma: application to identify potential biomarkers in pediatric chronic kidney disease. Anal Bioanal Chem. 2016; 408(3): 747-760. DOI:10.1007/s00216-015-9153-9.

Benito J, Acedo Y, Medrano L, Barcena E, Perez Garay R, Arana Arri E. Usefulness of new and traditional serum biomarkers in children with suspected appendicitis. Am J Emerg Med. 2016; 34(5): 871-876. DOI:10.1016/j.ajem.2016.02.011.

Alonso JJ, Canovas Fernandez A, Fernandez Martinez M, Perez Garay R. Meningeal lymphomatosis as late relapse of Waldenstrom's macroglobulinemia. Med Clin. 2016; 146(3): 141-141. DOI:10.1016/j.medcli.2015.06.013.

Perez Lopez J, Ceberio Hualde L, Garcia Morillo JS, Grau Junyent JM, Hermida Ameijeiras A, Lopez Rodriguez M, et al. Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement. Med Clin. 2016; 147(11): 506-506. DOI:10.1016/j.medcli.2016.09.018.

ALDAMIZ ETXEBARRIA P, LLARENA FERNANDEZ M, ANDRADE LODEIRO F. Guía clínica síndrome de Sanfilippo. FUNDACIÓN STOP SANFILIPPO. 2016

Segundo U, Lopez Cuadrado J, Aldamiz Echevarria L, Perez TA, Buenestado D, Iruetaguena A, et al. Automatic construction of Fuzzy Inference Systems for computerized clinical guidelines and protocols. Appl Soft Comput. 2015; 26: 257-269. DOI:10.1016/j.asoc.2014.09.045.

de Las Heras Montero J, Rajakumar K, Arslanian S. Vitamin D and type 2 diabetes mellitus, is there really a relationship?. An Pediatr. 2015; 82(2): 118-119. DOI:10.1016/j.anpedi.2014.04.005.

Aldamiz Echevarria L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, et al. 6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype. Mol Genet Metab. 2015; 115(1): 10-16. DOI:10.1016/j.ymgme.2015.03.007.

Miras A, Freire Corbacho A, Rodriguez Garcia J, Leis R, Aldamiz Echevarria L, Fraga JM, et al. Utility of bone turnover markers in metabolic bone disease detection in patients with phenylketonuria. Med Clin. 2015; 144(5): 193-197. DOI:10.1016/j.medcli.2013.10.025.

Aldamiz Echevarria L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, et al. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU (vol 109, pg 331, 2013). Mol Genet Metab. 2015; 114(3): 485-485. DOI:10.1016/j.ymgme.2015.01.010.

Andrade F, Sanchez Ortega A, Llarena M, Pinar Sueiro S, Galdos M, Aranzazu Goicolea M, et al. Metabolomics in non-arteritic anterior ischemic optic neuropathy patients by liquid chromatography-quadrupole time-of-flight mass spectrometry. Metabolomics. 2015; 11(2): 468-476. DOI:10.1007/s11306-014-0710-6.

Miras A, Dolores Boveda M, Leis MR, Mera A, Aldamiz Echevarria L, Fernandez Lorenzo JR, et al. Risk factors for developing mineral bone disease in phenylketonuric patients (vol 108, pg 149, 2013). Mol Genet Metab. 2015; 114(3): 483-483. DOI:10.1016/j.ymgme.2015.01.008.

Andrade F, Aldámiz Echevarría L, Llarena M, Couce ML. Sanfilippo syndrome: Overall review. Pediatr Int. 2015; 57(3): 331-338. DOI:10.1111/ped.12636.

Pajares S, Arias A, Garcia Villoria J, Macias Vidal J, Ros E, de las Heras J, et al. Cholestane-3 beta,5 alpha,6 beta-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. J Lipid Res. 2015; 56(10): 1926-1935. DOI:10.1194/jlr.M060343.

Ariceta G, Andrade F, Martinez indart L, Isabel Ezquerro A, Saez F, Jose Aldamiz echevarria L. FGF23 AND SDMA LEVELS CORRELATION IN CHILDREN WITH CKD INDICATE CARDIOVASCULAR INVOLVEMENT BEYOND MINERAL DISTURBANCES. Pediatr Nephrol. 2015; 30(9): 1608-1609

Andrade F, Llarena M, Lage S, Aldamiz Echevarria L. Quantification of Arginine and its Methylated Derivatives in Healthy Children by Liquid Chromatography-Tandem Mass Spectrometry. J Chromatogr Sci. 2015; 53(5): 787-792. DOI:10.1093/chromsci/bmu126.

Alshweki A, Perez Munuzuri A, Bana AM, Jose de Castro MA, Andrade F, Aldamiz Echevarria L, et al. Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial. Nutr J. 2015; 14. DOI:10.1186/s12937-015-0091-3.

Aldamiz Echevarria L, Andrade F, Llarena M, de las Heras J, Luz Couce M. Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria. Nephrology. 2015; 20(8): 576-579. DOI:10.1111/nep.12479.

Crujeiras V, Aldamiz Echevarria L, Dalmau J, Vitoria I, Andrade F, Roca I, et al. Vitamin and mineral status in patients with hyperphenylalaninemia. Mol Genet Metab. 2015; 115(4): 145-150. DOI:10.1016/j.ymgme.2015.06.010.

Hurtado JA, Iznaola C, Pena M, Ruiz J, Pena Quintana L, Kajarabille N, et al. Effects of Maternal Omega-3 Supplementation on Fatty Acids and on Visual and Cognitive Development. J Pediatr Gastroenterol Nutr. 2015; 61(4): 472-480. DOI:10.1097/MPG.0000000000000864.

Garate J, Fernandez R, Lage S, Bestard Escalas J, Lopez DH, Reigada R, et al. Imaging mass spectrometry increased resolution using 2-mercaptobenzothiazole and 2,5-diaminonaphtalene matrices: application to lipid distribution in human colon. Anal Bioanal Chem. 2015; 407(16): 4697-4708. DOI:10.1007/s00216-015-8673-7.

Arranz L, Aldamiz Echevarria L. Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant. Molec Genet Metab Rep. 2015; 3: 88-91. DOI:10.1016/j.ymgmr.2015.04.003.

Fernandez R, Lage S, Abad Garcia B, Barcelo Coblijn G, Teres S, Lopez DH, et al. Analysis of the Lipidome of Xenografts Using MALDI-IMS and UHPLC-ESI-QTOF. J Am Soc Mass Spectrom. 2014; 25(7): 1237-1246. DOI:10.1007/s13361-014-0882-3.

Aldamiz Echevarri L, Couce ML, Llarena M, Andrade F. A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4). Gynecol Endocrinol. 2014; 30(10): 691-693. DOI:10.3109/09513590.2014.928688.

Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, et al. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis. 2014; 9. DOI:10.1186/s13023-014-0107-7.

Martin Hernandez E, Aldamiz Echevarria L, Castejon Ponce E, Pedron Giner C, Luz Couce M, Serrano Nieto J, et al. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. Orphanet J Rare Dis. 2014; 9. DOI:10.1186/s13023-014-0187-4.

Andrade MM, Alfonso P, Irun P, Dalmau J, Luis Barbera J, Cano H, et al. Long Term Outcomes of ERT in Children with Gaucher Disease. Spanish Experience. Blood. 2014; 124(21)

Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, et al. Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU. Mol Genet Metab. 2013;109:331-8. FI: 2,834(Q2)

de Las Heras J, Rajakumar K, Lee S, Bacha F, Holick MF, Arslanian SA. 25-Hydroxyvitamin D in Obese Youth Across the Spectrum of Glucose Tolerance From Normal to Prediabetes to Type 2 Diabetes. Diabetes Care. 2013;36:2048-53. FI: 7,735(Q1)

Cohn GM, Morin I, Whiteman DA. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. Eur J Pediatr. 2013;172: 965-970. FI: 1,907(Q2)

Bueno MA, González-Lamuño D, Delgado-Pecellín C, Aldámiz-Echevarría L, Pérez B, Desviat LR, et al. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. J Hum Genet. 2013;58:279-84. FI: 2,365(Q3)

Bacha F, Gungor N, Lee S, de Las Heras J, Arslanian S. Indices of Insulin Secretion during a Liquid Mixed-Meal Test in Obese Youth with Diabetes. J Pediatr. 2013;162:924-9. FI: 4,035(Q1)

Mirás A, Bóveda MD, Leis MR, Mera A, Aldámiz-Echevarría L, Fernández-Lorenzo JR, et al. Risk factors for developing mineral bone disease in phenylketonuric patients. Mol Genet Metab. 2013;108:149-54. FI: 2,834(Q2)

Lage S, Andrade F, Prieto JA, Asla I, Rodríguez A, Ruiz N, et al.  Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns. J Pediatr Endocrinol Metab. 2013;26: 53-60. FI: 0,747(Q4)

Gil-Campos M, Sanjurjo-Crespo P. Omega-3 fatty acids and inborn errors of metabolism. Ann Nutr Metab. 2013;63:20. FI: 1,661(Q3) (Meeting Abstract)

Kajarabille N, Rodriguez Y, Hurtado JA, Pena M, Pena-Quintana L, Lage S, et al.  NUGELA Working Grp. Effect of DHA supplementation during pregnancy and lactation on inflammatory signaling in pregnant women and their neonates. Ann Nutr Metab. 2013;63:580-1. FI: 1,661(Q3).

Guillén-Navarro E, Blasco AJ, Gutierrez-Solana LG, Couce ML, Cancho-Candela R, Lázaro P. Guía de práctica clínica para el tratamiento del síndrome de Hunter. Med Clin (Barc). 2013;141: -0. FI: 1,399(Q2)

Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, et al. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients. Clin Nutr. 2013. : -0. FI: 3,298(Q1)

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