- Thiamine transporter-2 deficiency: outcome and treatment monitoringJuan 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...
- Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiencyBelen 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...
- Novel features in the evolution of adenylosuccinate lyase deficiencyBelen 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...
- Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 geneBelen 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...
- Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspectsBelen 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...
- Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imagingBelen 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...
- Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestationsB 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...
- Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric populationAida 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...
- Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapyNilo 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...
- Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiencyAida 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...
- 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...
- Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspectsMercedes 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...
- A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysisMarta 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...
- Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiencyMercedes 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...
- Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disordersMarta 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...
- Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarksMercedes 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...
- The monitoring of trace elements in blood samples from patients with inborn errors of metabolismMireia 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...
- Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic aminesIsaac 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...
- Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type IAlfredo Cerisola
Neurology Department, Sant Joan de Déu Hospital, Barcelona, Spain
Pediatr Neurol 40:426-31. 2009....
- 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)...
- Cranial ultrasound and chronological changes in molybdenum cofactor deficiencyMercedes 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...
- Characterization of tremor in phenylketonuric patientsBelen 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...
- A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseasesMercedes 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. ..
- Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyMireia Tondo
Inborn Errors of Metabolism Unit, Hospital Sant Joan de Deu, Barcelona, Spain Electronic address
Mol Genet Metab 110:231-6. 2013....
- Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndromeBelen 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...
- Secondary abnormalities of neurotransmitters in infants with neurological disordersA 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...
- Inborn errors of metabolism and motor disturbances in childrenA Garcia-Cazorla
Neurology and Metabolism Department, Hospital Sant Joan de Deu, 08950 Esplugues, Barcelona, Spain
J Inherit Metab Dis 32:618-29. 2009....
- [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)...
- Mental retardation and inborn errors of metabolismA 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...
- [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...
- Environmental circumstances influencing tic expression in childrenBelén 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...
- Paroxysmal movement disorders and episodic ataxiasEmilio 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...
- Tetrahydrobiopterin responsiveness in patients with phenylketonuriaBelen 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...
- Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndromeAna 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...
- 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....
- Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disordersSilvia 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...
- [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...