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Lista de obras de María L Couce

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Arterial stiffness assessment in patients with phenylketonuria.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Betaine anhydrous in homocystinuria: results from the RoCH registry

artículo científico publicado en 2019

Bone Status in Patients with Phenylketonuria: A Systematic Review

artículo científico publicado en 2020

Carbohydrate status in patients with phenylketonuria.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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].

artículo científico publicado en 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.

artículo científico publicado en 2015

Cost-Effectiveness Methods and Newborn Screening Assessment.

artículo científico publicado en 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

artículo científico publicado en 2018

Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Guía de práctica clínica para el tratamiento del síndrome de Hunter

artículo científico publicado en 2013

Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

Micronutrient in hyperphenylalaninemia

artículo científico publicado en 2015

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

New insights in growth of phenylketonuric patients.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Prenatal alcohol exposure and its repercussion on newborns

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Progressive heterotopic ossification: the arduousness of an accurate diagnosis

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2017

Supraventricular tachycardia in newborns and its association with gastroesophageal reflux disease

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 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]

artículo científico publicado en 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]

artículo científico publicado en 2009

[Left vocal cord paralysis after patent ductus arteriosus surgery]

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 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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