Maria L Couce

Maria L Couce

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Maria L Couce

Maria L Couce

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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.

Eur J Pediatr 2019 Jun 2;178(6):903-911. Epub 2019 Apr 2.

Group of Metabolism, Biocruces Bizkaia Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces 12, 48903, Barakaldo, Spain.

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http://dx.doi.org/10.1007/s00431-019-03365-0DOI Listing
June 2019

Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker.

Medicine (Baltimore) 2019 Apr;98(15):e15221

Neonatal Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela.

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http://dx.doi.org/10.1097/MD.0000000000015221DOI Listing
April 2019

Neonatal lethal hypophosphatasia: A case report and review of literature.

Medicine (Baltimore) 2018 Nov;97(48):e13269

Neonatal Service, Metabolic Unit, Department of Pediatrics, Santiago de Compostela University Hospital, IDIS (Health Research Institute of Santiago de Compostela), Ciberer, Spain.

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http://dx.doi.org/10.1097/MD.0000000000013269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130PMC
November 2018

V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.

Medicine (Baltimore) 2018 Jul;97(28):e11397

Unit of Pediatrics Gastroenterology, Hepatology and Nutrition, Pediatrics Department, Hospital Clínico Universitario de Santiago, Pediatrics Nutrition Group-IDIS, CiberObn.

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http://dx.doi.org/10.1097/MD.0000000000011397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076148PMC
July 2018

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.

Medicine (Baltimore) 2018 Jul;97(29):e11246

Metabolic Unit, Service of Neonatology. Department of Pediatrics. Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1097/MD.0000000000011246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086518PMC
July 2018

[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].

An Pediatr (Barc) 2018 Jun 16;88(6):356.e1-356.e11. Epub 2017 Jul 16.

Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Departamento de Pediatría, Universidad Autónoma de Madrid, CIBERobn, Instituto de Salud Carlos III, Madrid, España; Instituto de Alimentación IMDEA, CEI UAM+CSIC, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2017.06.004DOI Listing
June 2018

Carbohydrate status in patients with phenylketonuria.

Orphanet J Rare Dis 2018 06 27;13(1):103. Epub 2018 Jun 27.

Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, IDIS, Travesía da Choupana s/n,15706 Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1186/s13023-018-0847-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020344PMC
June 2018

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.

Int J Mol Sci 2018 May 27;19(6). Epub 2018 May 27.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.3390/ijms19061584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032105PMC
May 2018

Early cardiac abnormalities in obese children and their relationship with adiposity.

Nutrition 2018 Feb 21;46:83-89. Epub 2017 Sep 21.

Unit of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University Clinical Hospital of Santiago, IDIS. CiberObn. ISCIII. University of Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.nut.2017.09.001DOI Listing
February 2018

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.

Curr Med Chem 2018 Jan;25(3):404-432

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

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http://dx.doi.org/10.2174/0929867324666170718101946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815091PMC
January 2018

Relevance of urinary S100B protein levels as a short-term prognostic biomarker in asphyxiated infants treated with hypothermia.

Medicine (Baltimore) 2017 Nov;96(44):e8453

Neonatal Unit, Department of Pediatrics, Santiago de Compostela University Hospital, IDIS (Health Research Institute of Santiago de Compostela), CIBERER, Travesia Choupana, Santiago de Compostela, Spain.

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http://Insights.ovid.com/crossref?an=00005792-201711030-0004
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http://dx.doi.org/10.1097/MD.0000000000008453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682810PMC
November 2017

Nutritional practices in very low birth weight infants: a national survey.

Nutr Hosp 2017 10 24;34(5):1067-1072. Epub 2017 Oct 24.

Paediatrics Service. University Rovira i Virgili, Reus.

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http://dx.doi.org/10.20960/nh.1068DOI Listing
October 2017

Newborn screening for Fabry disease in the north-west of Spain.

Eur J Pediatr 2017 Aug 23;176(8):1075-1081. Epub 2017 Jun 23.

Rare Diseases & Pediatric Medicine Research Group, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Hospital Álvaro Cunqueiro, Bloque técnico, pl2 zona A, Estrada Clara Campoamor 341, Vigo, 36312, Pontevedra, Spain.

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http://dx.doi.org/10.1007/s00431-017-2950-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511307PMC
August 2017

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle.

Medicine (Baltimore) 2017 Jul;96(27):e7392

aUnit of Metabolism, BioCruces Health Research Institute, CIBER de Enfermedades Raras (CIBERER), Barakaldo bMetabolic Disorders Unit, Santiago de Compostela University Hospital, IDIS, CIBERER, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1097/MD.0000000000007392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502164PMC
July 2017

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

J Hum Genet 2017 Feb 18;62(2):185-189. Epub 2016 Aug 18.

Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1038/jhg.2016.104DOI Listing
February 2017

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Neuromuscul Disord 2017 Feb 11;27(2):188-192. Epub 2016 Nov 11.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain; Centro de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1016/j.nmd.2016.11.002DOI Listing
February 2017

Molecular mechanisms of appetite and obesity: a role for brain AMPK.

Clin Sci (Lond) 2016 10;130(19):1697-709

Department of Physiology, CIMUS, University of Santiago de Compostela-Instituto de Investigación Sanitaria, Santiago de Compostela 15782, Spain CIBER Fisiopatología de la Obesidad y Nutrición (CIBERobn), Santiago de Compostela 15706, Spain

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http://dx.doi.org/10.1042/CS20160048DOI Listing
October 2016

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.

Orphanet J Rare Dis 2016 09 9;11(1):123. Epub 2016 Sep 9.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Internal Medicine, Universidad de Santiago, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1186/s13023-016-0508-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016957PMC
September 2016

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

J Hum Genet 2016 Aug 28;61(8):731-44. Epub 2016 Apr 28.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1038/jhg.2016.38DOI Listing
August 2016

Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age.

J Matern Fetal Neonatal Med 2016 Mar 19;29(6):933-7. Epub 2015 Mar 19.

b Neonatal Unit, Department of Pediatrics , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain .

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http://dx.doi.org/10.3109/14767058.2015.1024647DOI Listing
March 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Micronutrient in hyperphenylalaninemia.

Data Brief 2015 Sep 1;4:614-21. Epub 2015 Aug 1.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clinico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1016/j.dib.2015.07.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543207PMC
September 2015

Vitamin and mineral status in patients with hyperphenylalaninemia.

Mol Genet Metab 2015 Aug 27;115(4):145-50. Epub 2015 Jun 27.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.06.010DOI Listing
August 2015

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.

Pediatrics 2015 Aug 13;136(2):e424-32. Epub 2015 Jul 13.

Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Spain; Servicio de Evaluación del Servicio Canario de la Salud (SESCS), El Rosario, Spain.

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http://dx.doi.org/10.1542/peds.2014-3399DOI Listing
August 2015

New insights in growth of phenylketonuric patients.

Eur J Pediatr 2015 May 1;174(5):651-9. Epub 2014 Nov 1.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Choupana s/n,, 15706, Santiago de Compostela, A Coruña, Spain,

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http://link.springer.com/content/pdf/10.1007%2Fs00431-014-24
Web Search
http://link.springer.com/10.1007/s00431-014-2446-8
Publisher Site
http://dx.doi.org/10.1007/s00431-014-2446-8DOI Listing
May 2015

[Utility of bone turnover markers in metabolic bone disease detection in patients with phenylketonuria].

Med Clin (Barc) 2015 Mar 20;144(5):193-7. Epub 2014 Feb 20.

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Servicio de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2013.10.025DOI Listing
March 2015

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

JIMD Rep 2015 1;20:113-20. Epub 2015 Feb 1.

Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, National Institute of Health Dr Ricardo Jorge, Porto, Portugal.

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http://dx.doi.org/10.1007/8904_2014_400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120PMC
March 2015

Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154].

Mol Genet Metab 2015 Mar 11;114(3):483. Epub 2015 Feb 11.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.01.008DOI Listing
March 2015

Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24].

Mol Genet Metab 2015 Mar 11;114(3):484. Epub 2015 Feb 11.

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario de Santiago, A Choupana s/n, 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2015.01.009DOI Listing
March 2015

A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4).

Gynecol Endocrinol 2014 Oct 13;30(10):691-3. Epub 2014 Jun 13.

Division of Metabolism, Cruces University Hospital , Barakaldo, Bizkaia , Spain and.

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http://dx.doi.org/10.3109/09513590.2014.928688DOI Listing
October 2014

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.

Eur J Med Genet 2014 Sep 30;57(9):527-31. Epub 2014 Jun 30.

CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain; Secció d'Errors Congènits del Metabolisme (IBC), Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain; IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2014.06.005DOI Listing
September 2014

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients.

Clin Nutr 2014 Aug 26;33(4):702-17. Epub 2013 Sep 26.

Gastroenterology and Pediatric Nutrition Unit, Virgen del Camino Hospital, Irunlarrea Street 4, 31008 Pamplona, Navarra, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2013.09.011DOI Listing
August 2014

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.

J Med Genet 2014 Jul 17;51(7):475-8. Epub 2014 Apr 17.

Fundación Pública Galega de Medicina Xenómica, SERGAS, Santiago de Compostela, Spain Grupo de Medicina Xenómica-USC, CIBERER, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2013-102020DOI Listing
July 2014

A glimpse into past, present, and future DNA sequencing.

Mol Genet Metab 2013 Sep-Oct;110(1-2):3-24. Epub 2013 May 11.

Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario de Santiago, A Choupana s/n, 15706 Santiago de Compostela, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.024DOI Listing
March 2014

Progressive heterotopic ossification: the arduousness of an accurate diagnosis.

J Pediatr 2014 Jan 18;164(1):203-4. Epub 2013 Sep 18.

Department of Pediatrics, Hospital Complex at the University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1016/j.jpeds.2013.08.005DOI Listing
January 2014

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.

Mol Genet Metab 2013 Nov 14;110(3):218-21. Epub 2013 Aug 14.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain

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http://dx.doi.org/10.1016/j.ymgme.2013.08.003DOI Listing
November 2013

Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.

J Hum Genet 2013 May 21;58(5):279-84. Epub 2013 Mar 21.

Unit of Metabolophaties and Nutrition, Department of Pediatrics, Hospital Universitario Virgen del Rocio, Seville, Spain.

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http://dx.doi.org/10.1038/jhg.2013.16DOI Listing
May 2013

Risk factors for developing mineral bone disease in phenylketonuric patients.

Mol Genet Metab 2013 Mar 5;108(3):149-54. Epub 2013 Jan 5.

Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.008DOI Listing
March 2013

New evidence for assessing tetrahydrobiopterin (BH(4)) responsiveness.

Metabolism 2012 Dec 24;61(12):1809-16. Epub 2012 Aug 24.

Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío Teaching Hospital, s/n, 41013, Sevilla, Spain.

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http://dx.doi.org/10.1016/j.metabol.2012.07.015DOI Listing
December 2012

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Mol Genet Metab 2010 May 4;100(1):42-5. Epub 2010 Jan 4.

Department of Pediatrics and Adolescent Medicine, Laboratory for Inherited Metabolic Disorders, Medical University of Vienna, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2009.12.016DOI Listing
May 2010