M L Couce

Summary

Country: Spain

Publications

  1. doi request reprint New insights in growth of phenylketonuric patients
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, A Choupana s n, 15706, Santiago de Compostela, A Coruna, Spain
    Eur J Pediatr 174:651-9. 2015
  2. doi request reprint The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain CIBER de Enfermedades Raras CIBERER, Barcelona, Spain IDIS, Santiago de Compostela, Spain Electronic address
    Eur J Med Genet 57:527-31. 2014
  3. pmc Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
    Ana Fernández-Marmiesse
    Unidad Diagnóstico y Tratamiento de Errores Congénitos del Metabolismo Servicio de Neonatología, Facultad de Medicina y Odontología de la Universidad de Santiago de Compostela, 15706 Santiago de Compostela, La Coruna, Spain
    Orphanet J Rare Dis 9:59. 2014
  4. doi request reprint Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, A Choupana, S N, 15706 Santiago de Compostela, A Coruna, Spain Electronic address
    Mol Genet Metab 110:218-21. 2013
  5. pmc Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
    María Luz Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, Santiago de Compostela, Spain
    Orphanet J Rare Dis 8:102. 2013
  6. doi request reprint Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis
    Ma Luz Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, Santiago de Compostela, Spain
    Eur J Paediatr Neurol 17:383-9. 2013
  7. doi request reprint Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
    M L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain
    Gene 521:100-4. 2013
  8. pmc Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
    M L Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, A Choupana s n 15706, Santiago de Compostela, Spain
    JIMD Rep 1:131-6. 2011
  9. pmc Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years
    M L Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Servicio de Neonatología Departamento de Pediatría, Hospital Clinico Universitario, Universidad de Santiago, 15706, Santiago de Compostela, Spain
    JIMD Rep 2:91-6. 2012
  10. ncbi request reprint [Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)]
    M L Couce Pico
    Unidad de Trastornos Metabólicos, Servicio de Pediatria, Hospital Clinico Universitario, Santiago de Compostela, Espana
    An Pediatr (Barc) 67:337-43. 2007

Collaborators

  • A Pérez-Muñuzuri
  • R Artuch
  • P Briones
  • Francisco Gude
  • M Ugarte
  • Hugo Rocha
  • Luisa Diogo
  • L Aldamiz-Echevarria
  • J Blasco
  • S H Mudd
  • Manuel Castro-Gago
  • M L Couce Pico
  • M López Sousa
  • J M Fraga
  • A Bana
  • Ana Fernández-Marmiesse
  • E Quintana
  • J A Cocho De Juan
  • D E Castiñeiras Ramos
  • M D Bóveda
  • A Pérez Feal
  • A Soto
  • Jesús Eirís
  • Jose Maria Fraga
  • Lúcia Lacerda
  • O López-Suárez
  • María Socorro Pérez-Poyato
  • A Bermejo
  • Judith Armstrong
  • M J Tabernero
  • Merce Pineda
  • S Dosil
  • Marcos Morey
  • José A Cocho
  • P Cabarcos
  • Sofia Gouveia
  • Daisy Castiñeiras
  • A Ribes
  • C Fernandez
  • F Andrade
  • L Sturiale
  • R Barone
  • R Montero
  • M J Fernandez Seara
  • J Eirís Puñal
  • A J Iglesias Rodríguez
  • D E Castiñeiras
  • M D Bóveda Fontán
  • B Perez
  • J A Cocho
  • J M Fraga Bermúdez

Detail Information

Publications21

  1. doi request reprint New insights in growth of phenylketonuric patients
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, A Choupana s n, 15706, Santiago de Compostela, A Coruna, Spain
    Eur J Pediatr 174:651-9. 2015
    ..Nevertheless, over-time evolutions of female height z-scores are different in each type of pathology, with a crossover between 8 and 12 years (p = 0.0186)...
  2. doi request reprint The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain CIBER de Enfermedades Raras CIBERER, Barcelona, Spain IDIS, Santiago de Compostela, Spain Electronic address
    Eur J Med Genet 57:527-31. 2014
    ..But, above all, this case illustrates the huge ethical dilemma which arises from any secondary finding (second tier) in newborn screening...
  3. pmc Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
    Ana Fernández-Marmiesse
    Unidad Diagnóstico y Tratamiento de Errores Congénitos del Metabolismo Servicio de Neonatología, Facultad de Medicina y Odontología de la Universidad de Santiago de Compostela, 15706 Santiago de Compostela, La Coruna, Spain
    Orphanet J Rare Dis 9:59. 2014
    ..Developing a powerful diagnostic tool could mitigate the protracted diagnostic process for these families, lead to better outcomes for current and proposed therapies, and provide the basis for more appropriate genetic counseling...
  4. doi request reprint Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
    Maria L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, A Choupana, S N, 15706 Santiago de Compostela, A Coruna, Spain Electronic address
    Mol Genet Metab 110:218-21. 2013
    ..Therefore, the currently available evidence shows that hypermethioninemia due to heterozygous MAT1A mutations such as Arg264His is a mild condition for which no treatment is necessary...
  5. pmc Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
    María Luz Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, Santiago de Compostela, Spain
    Orphanet J Rare Dis 8:102. 2013
    ..The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients...
  6. doi request reprint Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis
    Ma Luz Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, Santiago de Compostela, Spain
    Eur J Paediatr Neurol 17:383-9. 2013
    ..Our data support that, early diagnosis and treatment strategies are essential measures for the good clinical evolution of GA-1 patients...
  7. doi request reprint Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain
    M L Couce
    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain
    Gene 521:100-4. 2013
    ..Patients carrying null mutations in both alleles showed the highest degree of concordance with the most severe phenotypes. Genotype is a good predictor of BH4 response...
  8. pmc Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
    M L Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas, Departamento de Pediatria, Hospital Clinico Universitario, Universidad de Santiago, A Choupana s n 15706, Santiago de Compostela, Spain
    JIMD Rep 1:131-6. 2011
    ..This is the first report of the results from neonatal screening for MCADD in Spain. Our data provide further evidence of the benefits of MCADD screening and contribute to better understanding of this disease...
  9. pmc Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years
    M L Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Servicio de Neonatología Departamento de Pediatría, Hospital Clinico Universitario, Universidad de Santiago, 15706, Santiago de Compostela, Spain
    JIMD Rep 2:91-6. 2012
    ..Testing at the time of diagnosis in the neonatal period is very appropriate, and if there is a positive response, the patient can be treated with BH4 from onset with the advantage of being able to continue breast-feeding...
  10. ncbi request reprint [Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)]
    M L Couce Pico
    Unidad de Trastornos Metabólicos, Servicio de Pediatria, Hospital Clinico Universitario, Santiago de Compostela, Espana
    An Pediatr (Barc) 67:337-43. 2007
    ..Accumulation of the amino acids leucine, isoleucine, valine and alloisoleucine and their metabolic products in cells and biological fluids results in severe brain dysfunction...
  11. ncbi request reprint [Importance of early diagnosis and treatment in the prognosis of type I Glutaric Acidaemia]
    M L Couce Pico
    Unidad de Trastornos Metabólicos, Hospital Clinico Universitario, Santiago de Compostela, Espana
    An Pediatr (Barc) 69:239-43. 2008
    ..In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked...
  12. doi request reprint [A guide to the clinical diagnosis and urgent treatment of neonatal hyperammonaemia]
    M L Couce
    Unidad de Trastornos Metabólicos, Departamento de Pediatria, Hospital Clinico Universitario, Santiago de Compostela, Espana
    An Pediatr (Barc) 70:183-8. 2009
    ..The paediatrician and the neonatal doctor should have a diagnosis-therapy scheme for its urgent management...
  13. doi request reprint Inborn errors of metabolism in a neonatology unit: impact and long-term results
    Ma Luz Couce
    Department of Pediatrics, Unit of Neonatology, Clinic University Hospital of Santiago, Santiago de Compostela, Spain
    Pediatr Int 53:13-7. 2011
    ..Inborn errors of metabolism (IEM) have greater repercussions in neonatology units. The goal of our study was to evaluate the impact of IEM in a neonatology unit and the outcome of these neonates...
  14. doi request reprint Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
    Ma Luz Couce
    Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Departamento de Pediatria, Hospital Clinico Universitario de Santiago, Spain
    Mol Genet Metab 104:470-5. 2011
    ..This report highlights the benefits of urine sample collection during screening, and it is the first study on expanded newborn screening results in Spain...
  15. doi request reprint Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome
    María Luz Couce
    Unit for Diagnosis and Treatment of Metabolic Diseases, Department of Paediatrics, University Hospital of Santiago, Santiago de Compostela, Spain
    Pediatr Int 53:985-9. 2011
    ..The aim of the present study was to review the efficacy of long-term treatment of HT1 with nitisinone, expand knowledge about the clinical spectrum of the disease and assess a possible genotype-phenotype correlation...
  16. doi request reprint [Recommendations and management of type I hereditary or hepatorenal tyrosinemia]
    M L Couce
    Departamento de Pediatria, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Espana
    An Pediatr (Barc) 73:279.e1-4. 2010
    ..It is therefore important that the pediatrician has a clinical practice guideline with recommendations for diagnosis and treatment of this disease that leads to the appropriate intervention...
  17. doi request reprint Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme
    M L Couce
    Unidad de Trastornos Metabólicos, Departamento de Pediatria, Hospital Clinico Universitario, Santiago de Compostela, Spain
    J Inherit Metab Dis 31:S233-9. 2008
    ....
  18. ncbi request reprint The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment
    M D Bóveda
    Laboratorio Metabolopatías, Hospital Clinico Universitario, Planta 0, Trav Choupana s n, 15706, Santiago de Compostela, Spain
    J Inherit Metab Dis 30:812. 2007
    ..The observed responses to treatment argue for application of the BH4 loading test in all patients with HPA or PKU, independently of genotype, phenotype or age...
  19. doi request reprint Secondary disorders of glycosylation in inborn errors of fructose metabolism
    E Quintana
    Institut de Bioquimica Clinica, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, Edificio Helios III, C Mejía Lequerica s n, 08028, Barcelona, Spain
    J Inherit Metab Dis 32:S273-8. 2009
    ....
  20. doi request reprint [Left vocal cord paralysis after patent ductus arteriosus surgery]
    M López Sousa
    Servicio de Neonatologia, Hospital Clinico Universitario, Santiago de Compostela, España Electronic address
    An Pediatr (Barc) 82:e7-e11. 2015
    ..Patent ductus arteriosus (PDA) is a common problem in preterm newborns. Left vocal cord paralysis (LVCP) can complicate surgical closure if the recurrent nerve is damaged...
  21. doi request reprint Prenatal alcohol exposure and its repercussion on newborns
    A Bana
    Servicio de Neonatologia, Departamento de Pediatria, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain
    J Neonatal Perinatal Med 7:47-54. 2014
    ..Its early identification is essential for establishing preventive measures to diminish disabilities among newborns...