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Couce ML
Couce ML
Hospital Clínico Universitario de Santiago
Verified email at sergas.es
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Cited by
Cited by
Year
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
2582015
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
2552013
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
2522017
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
2452015
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
2342019
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
2072015
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
1642018
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
157*2010
Sanfilippo syndrome: Overall review
F Andrade, L Aldámiz‐Echevarría, M Llarena, ML Couce
Pediatrics International 57 (3), 331-338, 2015
1332015
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
1312014
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
1212010
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
1172019
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
1132011
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
1032013
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
1022012
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
992009
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
932016
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
882020
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
882020
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
792017
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