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Delineation of the movement disorders associated withFOXG1mutations: Table 1Thiamine transporter-2 deficiency: outcome and treatment monitoringGPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.Phenotypic insights into ADCY5-associated disease.Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.Paroxysmal movement disorders and episodic ataxias.Clinical, etiological and therapeutic aspects of cerebral folate deficiency.Ndufs4 related Leigh syndrome: A case report and review of the literature.Treatment of genetic defects of thiamine transport and metabolism.Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Cloperastine-based cough syrup and acute dystonic reactions.The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.Neuropsychiatric manifestations in late-onset urea cycle disorder patients.Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.Tetrahydrobiopterin responsiveness in patients with phenylketonuria.Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.Environmental circumstances influencing tic expression in children.Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.Characterization of tremor in phenylketonuric patients.Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.Human Metapneumovirus in the Cerebrospinal Fluid of a Patient With Acute Encephalitis.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.Neonatal Erythroderma as a First Manifestation of Menkes DiseaseFolate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiencyCerebral Folate Deficiency Syndromes in Childhood[Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?]A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysisCranial ultrasound and chronological changes in molybdenum cofactor deficiencyIs deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
P50
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P50
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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BELEN PEREZ DUEÑAS
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P106
P21
P31
P496
0000-0002-4979-2788