Clinical analysis
Service
Publications by the researcher in collaboration with Manuel Castro Gago (39)
2014
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1
2013
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Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis
European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389
2011
2010
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Levels of leptin, insulin, IGF-I, IGFBP-3, IL-6 and IL-8 in sera of patients with muscular dystrophy and mitochondrial encephalomyopathy
Journal of Pediatric Neurology, Vol. 8, Núm. 4, pp. 375-379
2008
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Therapeutic criteria in communicating childhood hydrocephalus
Journal of Neurosurgical Sciences, Vol. 52, Núm. 1, pp. 17-21
2007
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Evolution of Subclinical Hypothyroidism in Children Treated With Antiepileptic Drugs
Pediatric Neurology, Vol. 37, Núm. 6, pp. 426-430
2006
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Evolution of serum lipids and lipoprotein (a) levels in epileptic children treated with carbamazepine, valproic acid, and phenobarbital
Journal of Child Neurology, Vol. 21, Núm. 1, pp. 48-53
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Treatment of Mitochondrial Encephalomyopathies With a Xanthine Oxidase Inhibitor
Pediatric Neurology, Vol. 35, Núm. 5, pp. 318-322
2003
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Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis
Brain and Development, Vol. 25, Núm. 2, pp. 102-106
2001
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Concentrations of nucleotides, nucleosides, purine bases, oxypurines, uric acid, and neuron-specific enolase in the cerebrospinal fluid of children with sepsis
Journal of Child Neurology, Vol. 16, Núm. 9, pp. 704-706
2000
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Cerebrospinal fluid purine metabolite and neuron-specific enolase concentrations after febrile seizures
Brain and Development, Vol. 22, Núm. 7, pp. 427-431
1999
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Long-term treatment of children with epilepsy with valproate or carbamazepine may cause subclinical hypothyroidism
Epilepsia, Vol. 40, Núm. 12, pp. 1761-1766
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Neuron-specific enolase levels in the cerebrospinal fluid of neurologically healthy children
Brain and Development, Vol. 21, Núm. 1, pp. 16-19
1998
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Aciduria 3 -hidroxi-3 -metilglutârica y sîndrome Reye-like récurrente
Revista de Neurologia, Vol. 26, Núm. 154, pp. 911-914
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Serum carnitine levels in epileptic children before and during treatment with valproic acid, carbamazepine, and phenobarbital
Journal of Child Neurology, Vol. 13, Núm. 11, pp. 546-549
1997
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A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria
Journal of Lipid Research, Vol. 38, Núm. 11, pp. 2303-2313
1996
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Cerebrospinal fluid purine metabolites after complex febrile convulsions
Child's Nervous System, Vol. 12, Núm. 6, pp. 315-317
1995
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Cerebrospinal Fluid Purine Metabolites and Pyrimidine Bases After Brief Febrile Convulsions
Epilepsia, Vol. 36, Núm. 5, pp. 471-474
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Effects of long-term treatment with antiepileptic drugs on serum lipid levels in children with epilepsy
Neurology, Vol. 45, Núm. 6, pp. 1155-1157
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Purine and carnitine metabolism in muscle of patients with Duchenne muscular dystrophy
Clinica Chimica Acta, Vol. 243, Núm. 2, pp. 151-164