Publications


AUTHORS Iria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, Marta Segovia and María L. Couce.
TITLE Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
MAGAZINE/BOOK International Journal of Molecular Science
VOLUME Int. J. Mol. Sci. 2018, 19, 1584.
FIRST AND LAST PAGE
YEAR 2018
COUNTRY EDITION
KEY (1)
AUTHORS de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Fernández-Marmiesse A, Domínguez-González C.
TITLE Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
MAGAZINE/BOOK Neuromuscul Disorders
VOLUME Nov;26(11):749-753.
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YEAR 2016
COUNTRY EDITION
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AUTHORS Sonia Emperador, M Pilar Bayona-Bafaluy, Ana Fernández-Marmiesse, Mercedes Pineda, Blanca Felgueroso, Ester López-Gallardo, Rafael Artuch, Iria Roca, Eduardo Ruiz-Pesini, María Luz Couce and Julio Montoya.
TITLE Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
MAGAZINE/BOOK European Journal of Human Genetics advance online publication.
VOLUME 28 September 2016; doi:10.1038/ejhg.2016.124
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YEAR 2016
COUNTRY EDITION
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AUTHORS de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Fernández-Marmiesse A, Domínguez-González C.
TITLE Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
MAGAZINE/BOOK Neuromuscul Disorders
VOLUME Jul 16. pii: S0960-8966(16)30095-5. doi: 10.1016/j.nmd.2016.07.003.
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YEAR 2016
COUNTRY EDITION
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AUTHORS Couce ML, Vitoria I, Aldámiz-Echevarría L, Fernández-Marmiesse A, Roca I, Llarena M, Sánchez-Pintos P, Leis R, Hermida A.
TITLE Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
MAGAZINE/BOOK Orphanet Journal Rare Diseases
VOLUME 2016 Sep 9;11(1):123.
FIRST AND LAST PAGE
YEAR 2016
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG.
TITLE Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
MAGAZINE/BOOK Journal of Human Genetics
VOLUME Aug 18. doi: 10.1038/jhg.2016.104.
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YEAR 2016
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AUTHORS Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D.
TITLE Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
MAGAZINE/BOOK Endocrine
VOLUME 2016 Jul 30.
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YEAR 2016
COUNTRY EDITION
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AUTHORS De Fuenmayor-Fernández De La Hoz CP, Domínguez-González C, Gonzalo-Martínez JF, Esteban-Pérez J, Fernández-Marmiesse A, Arenas J, Martín MA, Hernández-Laín A.
TITLE A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
MAGAZINE/BOOK Muscle Nerve
VOLUME 2016 Oct;54(4):806-8.
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YEAR 2016
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AUTHORS Aldámiz-Echevarría L, Llarena M, Bueno MA, Dalmau J, Vitoria I, Fernández-Marmiesse A, Andrade F, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, Peña-Quintana L, González D, Sánchez-Valverde F, Desviat LR, Pérez B, Couce ML.
TITLE Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
MAGAZINE/BOOK Journal of Human Genetics
VOLUME 2016 Aug;61(8):731-44.
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YEAR 2016
COUNTRY EDITION
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AUTHORS Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García-Cazorla A.
TITLE Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
MAGAZINE/BOOK European Journal Paediatric Neurology
VOLUME 2015 Nov;19(6):652-9.
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YEAR 2015
COUNTRY EDITION
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AUTHORS Crujeiras V, Aldámiz-Echevarría L, Dalmau J, Vitoria I, Andrade F, Roca I, Leis R, Fernandez-Marmiesse A, Couce ML.
TITLE Vitamin and mineral status in patients with hyperphenylalaninemia.
MAGAZINE/BOOK Molecular Genetics and Metababolism
VOLUME 2015 Aug;115(4):145-50.
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YEAR 2015
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Fernandez-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Perez-Poyato MS, Armstromg J, Castiñeiras D, Cocho JA
TITLE Assessment of a targeted resequencing assay as a support tool in the diagnosis os lysosomal storage disorders
MAGAZINE/BOOK Orphanet Journal Rare Diseases
VOLUME 9
FIRST AND LAST PAGE 59
YEAR 2014
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA
TITLE A glimpse into past, present, and future DNA sequencing
MAGAZINE/BOOK Molecular Genetics and Metababolism
VOLUME 110
FIRST AND LAST PAGE 3-24
YEAR 2013
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Mayorandan S, Meyer U, Gokcay GF, Garcia Segarra N, Ogier de Baulny H, van Spronsen FJ, Zeman J, de Laet C, Spiekerkötter U, Thimm E, Maiorana A, Dionisi-Vici C, Möslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho J, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria Azuara LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das A
TITLE Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
MAGAZINE/BOOK Orphanet Journal Rare Diseases
VOLUME 9
FIRST AND LAST PAGE 107
YEAR 2014
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Couce ML, Macías-Vidal J, Castiñeiras DE, Bóveda MD, Fernández-Marmiesse A, Coll MJ
TITLE The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.
MAGAZINE/BOOK European Journal Medical Genetics
VOLUME DOI: 10.1016/j.ejmg.2014.06.005
FIRST AND LAST PAGE
YEAR 2014
COUNTRY EDITION Francia
KEY (1) A
AUTHORS De Castro López MJ, Iglesias Deus A, Rodriguez Vidal A, López Suárez O, Pérez Muñuzuri A, Couce Pico ML
TITLE Knee Dislocation in the Delivery Room
MAGAZINE/BOOK Journal of Pediatrics
VOLUME 165
FIRST AND LAST PAGE 871
YEAR 2014
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Pérez-Muñuzuri A, Couce-Pico ML, Baña-Souto A, López-Suárez O, Iglesias-Deus A, Blanco-Teijeiro MJ, Fernández-Lorenzo JR, Fraga-Bermúdez JM
TITLE Preclinical Screening for Retinopathy of Prematurity Risk Using IGF1 levels at 3 Weeks Post-partum
MAGAZINE/BOOK PLOS ONE
VOLUME 9
FIRST AND LAST PAGE 1-7
YEAR 2014
COUNTRY EDITION EEUU, Reino Unido
KEY (1) A
AUTHORS Balboa-Beltran E, Fernández-Seara MJ, Pérez-Muñuzuri A, Lago R, García-Magán C, Couce ML, Sobrino B, Amigo J, Carracedo A, Barros F
TITLE A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
MAGAZINE/BOOK Journal of Medical Genetics
VOLUME 51
FIRST AND LAST PAGE 475-478
YEAR 2014
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H
TITLE Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regiónal experience and high incidence of carnitine deficiency
MAGAZINE/BOOK Orphanet Journal Rare Diseases
VOLUME 8
FIRST AND LAST PAGE 102
YEAR 2013
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Aldámiz-Echevarría L, Bueno MA, Couce ML, Lage S, Dalmau J, Vitoria I, Andrade F, Llarena M, Blasco J, Alcalde C, Gil D, García MC, González-Lamuño D, Ruiz M, Ruiz MA, González D, Sánchez-Valverde F
TITLE Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU
MAGAZINE/BOOK Molecular Genetics and Metababolism
VOLUME 109
FIRST AND LAST PAGE 331-338
YEAR 2013
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Guillén-Navarro E, Domingo-Jimenez MR, Alcalde-Martín C, Cancho-Candela R, Couce ML, Galán-Gómez E, Alonso-Luengo O.
TITLE Clinical manifestations in female carriers of mucopolysaccharidosis type II: a panish cross-sectional study
MAGAZINE/BOOK Orphanet Journal Rare Diseases
VOLUME 8
FIRST AND LAST PAGE 92
YEAR 2013
COUNTRY EDITION Reino Unido
KEY (1) A
AUTHORS Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A
TITLE Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis
MAGAZINE/BOOK European Journal of Paediatric Neurology
VOLUME 17
FIRST AND LAST PAGE 383-389
YEAR 2013
COUNTRY EDITION Bélgica
KEY (1) A
AUTHORS Ruiz A, Couce ML, García Villoria J, Torres MA, Baña A, Yagüe J, Vilaseca MA, Ribes A, Arostegui J
TITLE Clinical, genetic and therapeutic diversity in two patients with severe mevalonate kinase deficiency
MAGAZINE/BOOK Pediatrics
VOLUME 129
FIRST AND LAST PAGE e535-539
YEAR 2012
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Lojo-Rodríguez M, Pérez-Muñuzuri A, Baña Souto AM, López-Suárez O, Couce-Pico ML
TITLE Trombosis intracardíaca neonatal ligada a catéter: utilidaddel activador tisular del plasminógeno recombinante
MAGAZINE/BOOK Acta Pediátrica Española
VOLUME 70
FIRST AND LAST PAGE 120-122
YEAR 2012
COUNTRY EDITION España
KEY (1) A
AUTHORS Couce ML, Castiñeiras DE, Bóveda MD, Baña A, Cocho JA, Iglesias AJ, Colón C, Alonso-Fernández J, Fraga JM
TITLE Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening program
MAGAZINE/BOOK Molecular Genetics and Metababolism
VOLUME 104
FIRST AND LAST PAGE 470-475
YEAR 2011
COUNTRY EDITION EEUU
KEY (1) A
AUTHORS Barreiro J, Alonso-Fernández JR, Castro-Feijoo L, Colón C, Cabanas P, Heredia C, Castaño LA, Gómez-Lado C, Couce ML, Pombo M
TITLE Congenital hypothyroidism with neurological and respiratory alterationsa case detected using a variable diagnostic threshold for TSH
MAGAZINE/BOOK Journal of clinical research in pediatric endocrinology
VOLUME 3
FIRST AND LAST PAGE 208-211
YEAR 2011
COUNTRY EDITION Turquía
KEY (1) A
AUTHORS Couce Pico ML, L Peña-Quintana
TITLE Alteraciones del metabolismo de los lípidos
MAGAZINE/BOOK Cruz-Tratado de Pediatría
VOLUME
FIRST AND LAST PAGE
YEAR 2014
COUNTRY EDITION Argentina
KEY (1) CL
AUTHORS Cocho de Juan JA, Castiñeiras DE, Bóveda Fontán MD, Colón Mejeras C, Fernández-Marmiesse A, Couce Pico ML, Fraga Bermúdez JM
TITLE Cribado neonatal de los errores congénitos del metabolismo
MAGAZINE/BOOK Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias
VOLUME
FIRST AND LAST PAGE 45-68
YEAR 2014
COUNTRY EDITION España
KEY (1) CL
AUTHORS ML Couce Pico, L Aldámiz-Echevarría
TITLE Tirosinemia aguda hereditaria
MAGAZINE/BOOK Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias
VOLUME
FIRST AND LAST PAGE 489-495
YEAR 2014
COUNTRY EDITION España
KEY (1) CL
AUTHORS ML Couce Pico, JR Fernández Lorenzo, JM Fraga Bermúdez
TITLE Trastornos del metabolismo de los aminoácidos azufrados
MAGAZINE/BOOK Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias
VOLUME
FIRST AND LAST PAGE 509-518
YEAR 2014
COUNTRY EDITION España
KEY (1) CL
AUTHORS ML Couce Pico, A Pérez-Muñuzuzuri, A Baña Souto, JA Cocho de Juan
TITLE Trastornos del metabolismo de la vitamina B12 y del ácido fólico
MAGAZINE/BOOK Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias
VOLUME
FIRST AND LAST PAGE 1093-1102
YEAR 2014
COUNTRY EDITION España
KEY (1) CL
AUTHORS Sara Brito, Kyle Thompson, Jaume Campistol, Jaime Colomer,​ Steven A. Hardy, Langping He, ​Ana Fernández-Marmiesse, Lourdes Palacios,​ Cristina Jou, Cecilia Jiménez-Mallebrera, Judith Armstrong, Raquel Montero,​ Rafael Artuch,​ Christin Tischner, Tina Wenz,​ Robert McFarland, Robert W. Taylor
TITLE Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
MAGAZINE/BOOK
VOLUME
FIRST AND LAST PAGE
YEAR 2015
COUNTRY EDITION Saudí Arabia
KEY (1)