- [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...
- TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatmentCarmen 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....
- Response to creatine analogs in fibroblasts and patients with creatine transporter deficiencyC 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....
- [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...
- Agenesis of internal carotid artery in a child with ipsilateral Horner's syndromeCarmen 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...
- Arginine supplementation in four patients with X-linked creatine transporter defectC 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...
- [Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]Adriana Ulate-Campos
Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Deu, Barcelona, España Electronic address
Med Clin (Barc) 143:25-8. 2014..Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC...
- [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...
- Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screeningAngela 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...
- Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patientsCristina 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....
- Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disordersElisa 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...
- Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic dietAdriana Ulate-Campos
Department of Pediatric Neurology, Hospital Sant Joan de Deu, Barcelona, Spain Electronic address
Pediatr Neurol 50:377-9. 2014..Regarding the differential diagnosis of AHC, glucose transporter 1 deficiency syndrome may be considered because these two disorders share some paroxystic and nonparoxystic features...
- Neuropsychiatric manifestations in late-onset urea cycle disorder patientsMercedes 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....
- Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiencyCarlos 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...
- Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano
Neuropediatric Department, Hospital Sant Joan de Deu, U 703 Centre for Biomedical Research on Rare Diseases CIBER ER, Instituto de Salud Carlos III, Passeig Sant Joan de Deu, 2 08950 Esplugues, Barcelona, Spain
Orphanet J Rare Dis 10:138. 2015..We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data...
- Alternating hemiplegia of childhood: metabolic studies in the largest European series of patientsCarmen 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...
- Clinical and genetic features of 13 Spanish patients with KCNQ2 mutationsMontesclaros Hortigüela
Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain
J Hum Genet . 2016..Journal of Human Genetics advance online publication, 18 August 2016; doi:10.1038/jhg.2016.104...