Carmen Fons

Summary

Country: Spain

Publications

  1. ncbi [Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients]
    Carmen Fons
    Servicio de Neurologia, Hospital Universitario Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    Med Clin (Barc) 130:577-9. 2008
  2. doi TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
    Carmen Fons
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona University, CIBER ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain
    Brain Dev 34:255-7. 2012
  3. ncbi [Moebius sequence: clinico-radiological findings]
    M C Fons-Estupiñá
    Servicio de Neurlogía, Hospital Universitari Sant Joan de Deu, 08950 Esplugues de Llobregat, Barcelona, Espana
    Rev Neurol 44:583-8. 2007
  4. doi Arginine supplementation in four patients with X-linked creatine transporter defect
    C Fons
    Department of Child Neurology, Hospital Universitari Sant Joan de Deu, Centre for Research on Rare Diseases CIBERER, Barcelona, Spain
    J Inherit Metab Dis 31:724-8. 2008
  5. doi Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome
    Carmen Fons
    Department of Child Neurology, Hospital Sant Joan de Déu for Children, University of Barcelona, Barcelona, Spain
    J Child Neurol 24:101-4. 2009
  6. doi Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
    C Fons
    Department of Child Neurology, Hospital Universitari Sant Joan de Deu, Centre for Research on Rare Diseases, CIBERER, Barcelona, Spain
    Mol Genet Metab 99:296-9. 2010
  7. doi [Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]
    Angela Sempere
    Neuropediatría, Hospital Sant Joan de Déu y Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues de Llobregat, Barcelona, Espana
    Med Clin (Barc) 133:745-9. 2009
  8. ncbi Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening
    Angela Arias
    Institut de Bioquimica Clinica, Servicio de Bioquímica y Genética Molecular, Hospital Clínic and Centre for Biomedical Research on Rare Diseases CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
    Clin Biochem 40:1328-31. 2007
  9. pmc Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients
    Cristina Villar
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, Esplugues, Barcelona, 08950, Spain
    JIMD Rep 4:13-6. 2012
  10. 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

Collaborators

Detail Information

Publications13

  1. ncbi [Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients]
    Carmen Fons
    Servicio de Neurologia, Hospital Universitario Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain
    Med Clin (Barc) 130:577-9. 2008
    ..Our aim was to describe the clinical manifestations, precipitating factors, complementary studies results, long-term outcome and response to treatment in a series of AHC patients...
  2. doi TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment
    Carmen Fons
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona University, CIBER ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain
    Brain Dev 34:255-7. 2012
    ....
  3. ncbi [Moebius sequence: clinico-radiological findings]
    M C Fons-Estupiñá
    Servicio de Neurlogía, Hospital Universitari Sant Joan de Deu, 08950 Esplugues de Llobregat, Barcelona, Espana
    Rev Neurol 44:583-8. 2007
    ..Its clinical spectrum is variable but it affects other cranial nerves and is associated with multiple malformations...
  4. doi Arginine supplementation in four patients with X-linked creatine transporter defect
    C Fons
    Department of Child Neurology, Hospital Universitari Sant Joan de Deu, Centre for Research on Rare Diseases CIBERER, Barcelona, Spain
    J Inherit Metab Dis 31:724-8. 2008
    ..We evaluate clinical characteristics and cerebral creatine replenishment after L-arginine therapy in four patients with CRTR-D...
  5. doi Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome
    Carmen Fons
    Department of Child Neurology, Hospital Sant Joan de Déu for Children, University of Barcelona, Barcelona, Spain
    J Child Neurol 24:101-4. 2009
    ..The final diagnosis was right, congenital Horner's syndrome due to ipsilateral internal carotid agenesis. We describe in detail the radiological findings and pathophysiological mechanisms of this unusual association...
  6. doi Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
    C Fons
    Department of Child Neurology, Hospital Universitari Sant Joan de Deu, Centre for Research on Rare Diseases, CIBERER, Barcelona, Spain
    Mol Genet Metab 99:296-9. 2010
    ....
  7. doi [Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]
    Angela Sempere
    Neuropediatría, Hospital Sant Joan de Déu y Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues de Llobregat, Barcelona, Espana
    Med Clin (Barc) 133:745-9. 2009
    ..We present the first three Spanish patients with GAMT deficiency, and we compare their clinical phenotype and treatment response with other published cases...
  8. ncbi Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening
    Angela Arias
    Institut de Bioquimica Clinica, Servicio de Bioquímica y Genética Molecular, Hospital Clínic and Centre for Biomedical Research on Rare Diseases CIBERER, Instituto de Salud Carlos III, Barcelona, Spain
    Clin Biochem 40:1328-31. 2007
    ..To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall...
  9. pmc Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients
    Cristina Villar
    Department of Pediatric Neurology, Hospital Sant Joan de Deu, Passeig Sant Joan de Deu, 2, Esplugues, Barcelona, 08950, Spain
    JIMD Rep 4:13-6. 2012
    ....
  10. 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...
  11. 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
    ....
  12. doi Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
    Carlos Ortez
    Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain
    J Alzheimers Dis 27:253-7. 2011
    ..Confirmation of these findings in other patients would help elucidating mechanisms of synaptic dysfunction in this disease, and highlight the role of Aβ in both early and late periods of life...
  13. doi Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients
    Carmen Fons
    Department of Child Neurology, Sant Joan de Déu Hospital, Barcelona University UB, CIBERER, Spain
    Eur J Paediatr Neurol 16:10-4. 2012
    ..Further studies including high-throughput diagnostic technologies seem necessary to elucidate the etiology of this severe and enigmatic disorder...