Belen Perez-Duenas

Summary

Country: Spain

Publications

  1. ncbi Thiamine transporter-2 deficiency: outcome and treatment monitoring
    Juan Darío Ortigoza-Escobar
    Department of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Passeig Sant Joan de Deu, 2, Esplugues, Barcelona 08950, Spain
    Orphanet J Rare Dis 9:92. 2014
  2. doi Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency
    Belen Perez-Duenas
    Department of Child Neurology, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Pediatrics 131:e1670-5. 2013
  3. doi Novel features in the evolution of adenylosuccinate lyase deficiency
    Belen Perez-Duenas
    Department of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Déu 2, 08950 Esplugues, Barcelona, Spain
    Eur J Paediatr Neurol 16:343-8. 2012
  4. doi Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
    Belen Perez-Duenas
    Departament of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain
    J Inherit Metab Dis 33:795-802. 2010
  5. doi Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
    Belen Perez-Duenas
    Department of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Déu 2, Esplugues, Barcelona, Spain
    Arch Neurol 68:615-21. 2011
  6. doi Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
    Belen Perez-Duenas
    Department of Neurology and Center for Biomedical Research on Rare Diseases CIBERER, ISCIII, Hospital Sant Joan de Deu, Barcelona, Spain
    Eur J Paediatr Neurol 13:534-40. 2009
  7. doi Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations
    B Perez-Duenas
    Department of Neurology and Center for Biomedical Research on Rare Diseases CIBERER, ISCIII, Hospital Sant Joan de Deu, Barcelona, Spain
    Eur J Paediatr Neurol 13:444-51. 2009
  8. ncbi Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population
    Aida Ormazabal
    Department of Clinical Chemistry, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain
    Clin Chim Acta 371:159-62. 2006
  9. ncbi Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
    Nilo Lambruschini
    Nutrition Department, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Mol Genet Metab 86:S54-60. 2005
  10. doi Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
    Aida Ormazabal
    Department of Clinical Biochemistry, Hospital Sant Joan de Deu, Barcelona, Spain
    Clin Biochem 44:719-21. 2011

Collaborators

Detail Information

Publications37

  1. ncbi Thiamine transporter-2 deficiency: outcome and treatment monitoring
    Juan Darío Ortigoza-Escobar
    Department of Child Neurology, Sant Joan de Déu Hospital, University of Barcelona, Passeig Sant Joan de Deu, 2, Esplugues, Barcelona 08950, Spain
    Orphanet J Rare Dis 9:92. 2014
    ..The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse...
  2. doi Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency
    Belen Perez-Duenas
    Department of Child Neurology, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Pediatrics 131:e1670-5. 2013
    ..Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation...
  3. doi Novel features in the evolution of adenylosuccinate lyase deficiency
    Belen Perez-Duenas
    Department of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Déu 2, 08950 Esplugues, Barcelona, Spain
    Eur J Paediatr Neurol 16:343-8. 2012
    ..Patients present developmental delay, often accompanied by epilepsy and autistic spectrum disorders...
  4. doi Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
    Belen Perez-Duenas
    Departament of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain
    J Inherit Metab Dis 33:795-802. 2010
    ..Progressive ataxia and myoclonic epilepsy, together with impaired brain myelination, are clinical hallmarks of the disease...
  5. doi Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
    Belen Perez-Duenas
    Department of Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Déu 2, Esplugues, Barcelona, Spain
    Arch Neurol 68:615-21. 2011
    ..Diverse metabolic pathways and unrelated processes can lead to cerebrospinal fluid 5-methyltetrahydrofolate (5-MTHF) depletion, the hallmark of cerebral folate deficiency...
  6. doi Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
    Belen Perez-Duenas
    Department of Neurology and Center for Biomedical Research on Rare Diseases CIBERER, ISCIII, Hospital Sant Joan de Deu, Barcelona, Spain
    Eur J Paediatr Neurol 13:534-40. 2009
    ..Acute striatal necrosis is a devastating consequence of encephalopathic crisis in patients with glutaric aciduria type I (GA-I), but the mechanisms underlying brain injury are not completely understood...
  7. doi Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations
    B Perez-Duenas
    Department of Neurology and Center for Biomedical Research on Rare Diseases CIBERER, ISCIII, Hospital Sant Joan de Deu, Barcelona, Spain
    Eur J Paediatr Neurol 13:444-51. 2009
    ..The diverse phenotypes and atypical manifestations in our series may be due to their genetic heterogeneity...
  8. ncbi Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population
    Aida Ormazabal
    Department of Clinical Chemistry, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues, Barcelona, Spain
    Clin Chim Acta 371:159-62. 2006
    ..Our aim was to analyse CSF 5-MTHF concentrations in a paediatric control population and in patients with various neurological disorders...
  9. ncbi Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
    Nilo Lambruschini
    Nutrition Department, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Mol Genet Metab 86:S54-60. 2005
    ..Low doses of BH4 in monotherapy permit withdrawal of the special formula and guarantee a good clinical and nutritional outcome with no adverse side effects in PKU patients...
  10. doi Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
    Aida Ormazabal
    Department of Clinical Biochemistry, Hospital Sant Joan de Deu, Barcelona, Spain
    Clin Biochem 44:719-21. 2011
    ..To evaluate the automated determination of total cerebrospinal fluid (CSF) folates for the diagnosis of cerebral folate deficiency...
  11. doi Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
    Elisa De Grandis
    Neurology Department, Hospital Sant Joan de Deu, Barcelona, Spain
    J Inherit Metab Dis 33:803-9. 2010
    ..No inborn errors of TPH were found. Due to serotonin's neurotrophic role and to ameliorate symptoms, a supplementary treatment with 5-hydroxytriptophan would seem advisable in these patients...
  12. doi Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects
    Mercedes Serrano
    Neuropediatrics and Clinical Biochemistry Departments, Hospital Sant Joan de Deu, Center for Biomedical Research in Rare Diseases CIBERER ISCIII, Barcelona, Spain
    Drug Discov Today 17:1299-306. 2012
    ..In this review, we focus our attention on the genetic diseases leading to profound cerebral folate deficiency (CFD) and review current clinical, metabolic and therapeutic approaches...
  13. ncbi A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis
    Marta Ribases
    Departament de Psiquiatria, Hospital Universitari Vall d Hebron, Barcelona, Spain
    Mol Genet Metab 92:274-7. 2007
    ..Previous studies support that the CRE in the TH gene is essential for its transcription, suggesting that mutations within this consensus motif may cause an impairment of catecholamine biosynthesis and lead to a pathogenic phenotype...
  14. doi Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
    Mercedes Serrano
    Child Neurology and Radiology Departments, Hospital Sant Joan de Deu, Barcelona, Spain
    Mov Disord 27:1295-8. 2012
    ..Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine...
  15. doi Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
    Marta Molero-Luís
    Neurometabolic Unit, Hospital Sant Joan de Déu and Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain
    Dev Med Child Neurol 55:559-66. 2013
    ..To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, and electrophysiological characteristics...
  16. doi Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks
    Mercedes Serrano
    Neurology Department, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain
    Mov Disord 23:1297-300. 2008
    ..We propose that very early treatment of LND patients with levodopa may improve their neurological symptoms and may contribute to a better outcome...
  17. ncbi The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
    Mireia Tondo
    Inborn Errors of Metabolism Unit, Clinical Biochemistry, Gastroenterology and Nutrition Departments, Hospital Sant Joan de Deu, Centre for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain
    J Inherit Metab Dis 33:S43-9. 2010
    ..Further investigations seem advisable about Se and Co availability in special diets...
  18. doi Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines
    Isaac Marin-Valencia
    Neuropediatrics, Hospital Sant Joan de Deu, and CIBER de Enfermedades Raras CIBERER, Barcelona, Spain
    Clin Biochem 41:1306-15. 2008
    ..Reference values should be established in each laboratory since there is a strong association between age and biogenic amine concentrations in CSF...
  19. doi Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I
    Alfredo Cerisola
    Neurology Department, Sant Joan de Déu Hospital, Barcelona, Spain
    Pediatr Neurol 40:426-31. 2009
    ....
  20. ncbi Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
    Pablo Millet
    PKU follow up Unit Department of Biochemistry, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Clin Biochem 38:1127-32. 2005
    ..To evaluate deoxypyridinoline as a resorption marker in phenylketonuria (PKU) and to search for a relationship between deoxypyridinoline, calcium/creatinine index (Ca/Cr I), osteocalcin and bone alkaline phosphatase (BAP)...
  21. ncbi Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
    Mercedes Serrano
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Paseo de Sant Joan de Déu, 2 Esplugues de Llobregat, 08950 Barcelona, Spain
    Pediatr Radiol 37:1043-6. 2007
    ..Our report supports the utility of cranial US, a noninvasive bed-side technique, in the detection and follow-up of these rapidly changing lesions...
  22. ncbi Characterization of tremor in phenylketonuric patients
    Belen Perez-Duenas
    Neurology Department, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, 08950 Esplugues Barcelona, Spain
    J Neurol 252:1328-34. 2005
    ..Our results of the neurophysiological examination suggest that tremor in phenylketonuric patients is dependent on a dysfunction of central nervous system networks and may be an index of cerebral damage...
  23. ncbi A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases
    Mercedes Casado
    Clinical Biochemistry Department, Hospital Sant Joan de Déu CIBERER, ISCIII, Passeig Sant Joan de Déu 2, 08950, Esplugues, Barcelona, Spain
    Anal Bioanal Chem 406:4337-43. 2014
    ..Only urine from patients with aspartylglucosaminuria and Schindler disease displayed normal results. ..
  24. ncbi Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
    Mireia Tondo
    Inborn Errors of Metabolism Unit, Hospital Sant Joan de Deu, Barcelona, Spain Electronic address
    Mol Genet Metab 110:231-6. 2013
    ....
  25. doi Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome
    Belen Perez-Duenas
    Department of Neurology, Hospital Universitari Sant Joan de Deu, Barcelona, Spain
    Arch Neurol 66:1410-4. 2009
    ..To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly...
  26. ncbi Secondary abnormalities of neurotransmitters in infants with neurological disorders
    A Garcia-Cazorla
    Neurology Department, Hospital Sant Joan de Deu, University of Barcelona and Centre for Biomedical Research on Rare Diseases CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
    Dev Med Child Neurol 49:740-4. 2007
    ..5-HIAA values tended to be decreased in patients with brain cortical atrophy. The possibility of treating patients with L-Dopa and 5-hydroxytryptophan, in order to improve their neurological function and maturation, may be considered...
  27. doi Inborn errors of metabolism and motor disturbances in children
    A Garcia-Cazorla
    Neurology and Metabolism Department, Hospital Sant Joan de Deu, 08950 Esplugues, Barcelona, Spain
    J Inherit Metab Dis 32:618-29. 2009
    ....
  28. ncbi [Inborn errors of neurotransmitters in neuropaediatrics]
    A Garcia-Cazorla
    Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    Rev Neurol 41:99-108. 2005
    ..We also sought to determine the diagnostic methodology of these disorders (collection and analysis of samples)...
  29. ncbi Mental retardation and inborn errors of metabolism
    A Garcia-Cazorla
    Neurology and Metabolism Department, Hospital Sant Joan de Deu, Barcelona, and Centre for Biomedical Research on Rare Diseases CIBER ER, Instituto de Salud Carlos III, Barcelona, Spain
    J Inherit Metab Dis 32:597-608. 2009
    ..Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment...
  30. ncbi [Orientation of mental retardation from neurometabolic diseases]
    A Garcia-Cazorla
    Hospital Sant Joan de Deu, 08950 Esplugues de Llobregat, Espana
    Rev Neurol 43:S187-92. 2006
    ..It is important first to consider those for which treatment is available and that could be diagnosed genetically for possible family counselling...
  31. ncbi Environmental circumstances influencing tic expression in children
    Belén Caurín
    Department of Child Neurology, Hospital Sant Joan de Deu, Universitat de Barcelona, Spain
    Eur J Paediatr Neurol 18:157-62. 2014
    ..To assess the clinical features and severity of tics and environmental factors influencing tic expression in a cohort of children with tic disorders...
  32. doi Paroxysmal movement disorders and episodic ataxias
    Emilio Fernandez-Alvarez
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona, Spain Electronic address
    Handb Clin Neurol 112:847-52. 2013
    ..Some of these latter patients develop progressive ataxia with vermian atrophy. This disorder is associated with mutations in the human Ca channel alfa 1 subunit CACN1A4 gene...
  33. ncbi Tetrahydrobiopterin responsiveness in patients with phenylketonuria
    Belen Perez-Duenas
    Department of Neuropediatrics, Hospital Sant Joan de Deu, Universitat de Barcelona, Barcelona, Spain
    Clin Biochem 37:1083-90. 2004
    ..To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients...
  34. doi Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome
    Ana Roche
    Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain
    Am J Kidney Dis 53:677-80. 2009
    ..96 mg/dL) at 38 days of life. Kidney function was preserved in our patient. In summary, rasburicase proved to be a safe and effective treatment in a patient with Lesch-Nyhan syndrome with uric acid nephropathy in the neonatal period...
  35. doi Neuropsychiatric manifestations in late-onset urea cycle disorder patients
    Mercedes Serrano
    Neurometabolic Unit, Hospital Sant Joan de Deu, Centre for Biomedical Research on Rare Diseases CIBER ER, Instituto de Salud Carlos III, Barcelona, Spain
    J Child Neurol 25:352-8. 2010
    ....
  36. doi Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders
    Silvia Marin
    Endocrinology Unit, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain
    Horm Res Paediatr 77:63-8. 2012
    ..Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders...
  37. ncbi [Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?]
    Maria Eugenia Russi
    Servicio de Neuropediatria, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Espana
    Rev Neurol 50:257-64. 2010
    ..4 to 20%. AIM. To describe a population of children with cranio-cervical arterial dissections, analyzing clinical presentation, risk factors, angiographic findings, evolution and treatment...