The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015 | 258 | 2015 |
A glimpse into past, present, and future DNA sequencing M Morey, A Fernández-Marmiesse, D Castiñeiras, JM Fraga, ML Couce, ... Molecular genetics and metabolism 110 (1-2), 3-24, 2013 | 258 | 2013 |
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency M Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ... Journal of inherited metabolic disease 40, 21-48, 2017 | 254 | 2017 |
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015 | 246 | 2015 |
Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients A Goyanes, CM Madla, A Umerji, GD Piñeiro, JMG Montero, MJL Diaz, ... International Journal of Pharmaceutics 567, 118497, 2019 | 237 | 2019 |
SEDATION AND ANALGESIA PRACTICES IN NEONATAL INTENSIVE CARE UNITS (EUROPAIN): RESULTS FROM A PROSPECTIVE COHORT STUDY. ESW Group The Lancet Respiratory Medicine. 3 (796-812), 2015 | 207 | 2015 |
NGS technologies as a turning point in rare disease research, diagnosis and treatment A Fernandez-Marmiesse, S Gouveia, ML Couce Current medicinal chemistry 25 (3), 404-432, 2018 | 166 | 2018 |
MANAGEMENT OF PHENYLKETONURIA IN EUROPE: SURVEY RESULTS FROM 19 COUNTRIES. SF 11. Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M ... Mol Genet Metab 991, 109-115, 2010 | 159* | 2010 |
Sanfilippo syndrome: Overall review F Andrade, L Aldámiz‐Echevarría, M Llarena, ML Couce Pediatrics International 57 (3), 331-338, 2015 | 134 | 2015 |
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice S Mayorandan, U Meyer, G Gokcay, NG Segarra, HO de Baulny, ... Orphanet journal of rare diseases 9, 1-16, 2014 | 131 | 2014 |
Serum levels of IGF1 are a useful predictor of retinopathy of prematurity A Pérez‐Muñuzuri, JR Fernández‐Lorenzo, ML Couce‐Pico, ... Acta Paediatrica 99 (4), 519-525, 2010 | 121 | 2010 |
The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet journal of rare diseases 14, 1-11, 2019 | 120 | 2019 |
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. FJM Couce ML, Castiñeiras DE, Bóveda MD, Baña A, Cocho JA, Iglesias AJ ... Mol Genet Metab 104, 470-475, 2011 | 113 | 2011 |
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study S Keil, K Anjema, FJ van Spronsen, N Lambruschini, A Burlina, ... Pediatrics 131 (6), e1881-e1888, 2013 | 103 | 2013 |
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes PP Jumbo-Lucioni, K Garber, J Kiel, I Baric, GT Berry, A Bosch, A Burlina, ... Journal of inherited metabolic disease 35, 1037-1049, 2012 | 102 | 2012 |
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) E Richard, A Jorge‐Finnigan, J Garcia‐Villoria, B Merinero, LR Desviat, ... Human mutation 30 (11), 1558-1566, 2009 | 99 | 2009 |
Impact of age at onset and newborn screening on outcome in organic acidurias EIMDCML Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P ... J Inherit Metab Dis 39, 341-353, 2016 | 93 | 2016 |
Effects of prebiotic and probiotic supplementation on lactase deficiency and lactose intolerance: a systematic review of controlled trials R Leis, MJ de Castro, C de Lamas, R Picáns, ML Couce Nutrients 12 (5), 1487, 2020 | 89 | 2020 |
Mucopolysaccharidosis IVA: diagnosis, treatment, and management K Sawamoto, JV Álvarez González, M Piechnik, FJ Otero, ML Couce, ... International journal of molecular sciences 21 (4), 1517, 2020 | 88 | 2020 |
Oral Administration to Nursing Women of Lactobacillus fermentum CECT5716 Prevents Lactational Mastitis Development: A Randomized Controlled Trial JA Hurtado, JA Maldonado-Lobón, MP Díaz-Ropero, K Flores-Rojas, ... Breastfeeding medicine 12 (4), 202-209, 2017 | 80 | 2017 |