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List of works by María L Couce

6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype

scientific article

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

scientific article

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

scientific article published on 13 June 2014

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

scientific article published on 11 April 2018

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

scientific article (publication date: July 2014)

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.

scientific article

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

scientific article published on 01 April 2019

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

scientific article published on 26 September 2013

Arterial stiffness assessment in patients with phenylketonuria.

scientific article published in December 2017

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

scientific article

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

scientific article published on 02 April 2019

Betaine anhydrous in homocystinuria: results from the RoCH registry

scientific article published on 14 March 2019

Bone Status in Patients with Phenylketonuria: A Systematic Review

scientific article published on 20 July 2020

Carbohydrate status in patients with phenylketonuria.

scientific article

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

scientific article published on 31 March 2016

Carnitine and acylcarnitine percentiles in very low birth weight premature newborn screening samples

scientific article published on 22 July 2014

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

scientific article published on 01 October 2020

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

scientific article

Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

scientific article published on 12 July 2011

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

scientific article

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

scientific article published on 03 April 2019

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

scientific article published on 25 June 2013

Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth

scientific article published on 21 May 2019

Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature.

scientific article published in June 2018

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

scientific article

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

scientific article

Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].

scientific article published on 11 February 2015

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

scientific article published on 11 February 2015

Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

scientific article published on 12 February 2015

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

scientific article published on 13 July 2015

Cost-Effectiveness Methods and Newborn Screening Assessment.

scientific article published in January 2017

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

scientific article published on 01 September 2012

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

scientific article published on 01 July 2018

Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria

scientific article published on 01 August 2015

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

scientific article published on 21 September 2017

Effects of Nutritional Education Interventions on Metabolic Risk in Children and Adolescents: A Systematic Review of Controlled Trials

scientific article published on 21 December 2019

Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials

scientific article published on 20 May 2020

Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial.

scientific article

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

scientific article published on 5 April 2018

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

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

scientific article published on 01 November 2015

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

scientific article published on 22 September 2011

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

scientific article published on 19 March 2015

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

scientific article published on 20 July 2015

Free-access copy-number variant detection tools for targeted next-generation sequencing data

scientific article published on 01 January 2019

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

scientific article published on 01 November 2019

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

scientific article published on December 2016

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Guía de práctica clínica para el tratamiento del síndrome de Hunter

scientific article published on 21 September 2013

Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia

scientific article published on 01 February 2017

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

scientific article published on 11 November 2016

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

scientific article published on 20 May 2008

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

scientific article published on 20 August 2019

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

scientific article published on 02 September 2020

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

scientific article published on 24 July 2018

Inborn errors of metabolism in a neonatology unit: impact and long-term results

scientific article published on 01 February 2011

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

scientific article published in December 2017

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

scientific article published on July 2017

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

scientific article published on 09 September 2016

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

scientific article published on 20 May 2013

Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.

scientific article published on 6 September 2011

Metabolic Bone Disease of Prematurity: Risk Factors and Associated Short-Term Outcomes

scientific article published on 10 December 2020

Micronutrient in hyperphenylalaninemia

scientific article published on August 2015

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

scientific article published on 24 March 2012

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

scientific article published on 14 March 2013

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

scientific article published on 21 March 2013

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

scientific article

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

scientific article

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

scientific journal article

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

scientific article published on 23 February 2020

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

scientific article

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

scientific article

Neonatal lethal hypophosphatasia: A case report and review of literature

scientific article published on 01 November 2018

New CTSA mutation in early infantile galactosialidosis

scientific article published on 10 July 2018

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

scientific article published on 24 August 2012

New insights in growth of phenylketonuric patients.

scientific article published in November 2014

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

scientific article

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

scientific article published on 23 June 2017

Newborn screening for homocystinurias: recent recommendations versus current practice

scientific article published on 01 January 2019

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

scientific article published on 10 July 2013

Non-alcoholic fatty liver in hereditary fructose intolerance

scientific article published on 15 February 2019

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

scientific journal article

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

scientific article published on 24 October 2017

Oral Administration to Nursing Women of Lactobacillus fermentum CECT5716 Prevents Lactational Mastitis Development: A Randomized Controlled Trial

scientific article published in May 2017

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019

Potential protective role of endogenous glutamate-oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic-ischaemic asphyxia

scientific article published on 24 July 2015

Prenatal alcohol exposure and its repercussion on newborns

scientific article published on 01 January 2014

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

scientific article published on 27 May 2018

Progressive heterotopic ossification: the arduousness of an accurate diagnosis

scientific article

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing

scientific article published on 22 April 2016

Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

scientific article published on 18 September 2019

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

scientific article published on 12 May 2022

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

scientific article published on 23 July 2020

Recombinant Bile Salt-Stimulated Lipase in Preterm Infant Feeding: A Randomized Phase 3 Study.

scientific article published on 31 May 2016

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

scientific article published on 25 June 2011

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

scientific article published in November 2017

Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening

scientific article published on 01 August 2018

Risk factors for developing mineral bone disease in phenylketonuric patients

scientific article published on 05 January 2013

Sanfilippo syndrome: Overall review

article

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

scientific article published on 24 November 2017

Supraventricular tachycardia in newborns and its association with gastroesophageal reflux disease

scientific article published on 19 December 2016

Tension pneumocephalus induced by high-flow nasal cannula ventilation in a neonate.

scientific article published on 18 October 2016

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.

scientific article published on 4 June 2013

The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study

scientific article published on 20 March 2019

The Impact of Postnatal Systemic Steroids on the Growth of Preterm Infants: A Multicenter Cohort Study

scientific article published on 11 November 2019

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

scientific article published on 30 June 2014

The natural history of classic galactosemia: lessons from the GalNet registry

scientific article published on 27 April 2019

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

scientific article

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

scientific article published on 15 April 2015

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment

scientific article published on 21 June 2007

Transition from paediatric care to adult care for patients with mucopolysaccharidosis.

scientific article

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome

scientific article published on 01 December 2011

Umbilical cord and visceral hemangiomas diagnosed in the neonatal period: A case report and a review of the literature.

scientific article published on October 2016

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

scientific article

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

scientific article published on 19 August 2021

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

scientific article published on 01 July 2018

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

scientific article published on 09 January 2019

Vitamin and mineral status in patients with hyperphenylalaninemia

scientific article published on 27 June 2015

[A guide to the clinical diagnosis and urgent treatment of neonatal hyperammonaemia]

scientific article published on 03 February 2009

[Epidemiological study of the metabolic diseases with homocystinuria in Spain]

scientific article published on 01 November 2011

[Fifty years of neonatal screening for congenital diseases in Spain]

scientific article published on 21 December 2018

[Hyperammonaemia. Treatment in the emergency and acute phase of a patient with citrullinaemia]

scientific article published on 30 October 2009

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

scientific article published on 15 July 2017

[Left vocal cord paralysis after patent ductus arteriosus surgery]

scientific article published on 10 May 2014

[Oculocutaneous albinism 1B associated with a new mutation in the TYR gene]

scientific article published on 22 October 2012

[Recommendations and management of type I hereditary or hepatorenal tyrosinemia]

scientific article published on 01 September 2010

[Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement].

scientific article published on 2 November 2016

[Use of erythropoietin in the management of anaemia in patients with pyroglutamic aciduria]

scientific article published on 20 February 2011

[Usefulness of mandibular distraction in the Pierre Robin sequence in neonates]

scientific article published on 17 June 2013

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

scientific article published on 20 February 2014

[When rare diseases become urgent: inborn errors of metabolism in primary care]

scientific article published on 27 March 2009

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