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List of works by BELEN PEREZ DUEÑAS

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

scientific article published on 22 July 2005
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

scientific article published on 15 April 2013
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

scientific article published on 6 July 2012
Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

scientific article published in December 2004
Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016
Cerebral Folate Deficiency Syndromes in Childhood

scientific article published on 01 May 2011
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

scientific article published on 11 February 2016
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

scientific article published on 11 March 2013
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

scientific article
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

scientific article published on 30 June 2016
Ndufs4 related Leigh syndrome: A case report and review of the literature.

scientific article published on 11 April 2016
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

scientific article published on 27 October 2005
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

scientific article published on 10 December 2015
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

scientific article
Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

scientific article published on 14 August 2009
Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: Clinical, biochemical and genetic analysis

article
Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

scientific article published on 03 September 2008
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

scientific article
Delineation of the movement disorders associated withFOXG1mutations: Table 1

scientific article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

scientific article
Human Metapneumovirus in the Cerebrospinal Fluid of a Patient With Acute Encephalitis.

scientific article published in May 2012
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

scientific article published on July 23, 2012
Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.

scientific article published on 6 November 2008
Characterization of tremor in phenylketonuric patients.

scientific article published on 5 July 2005
Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

scientific article published in July 2008
Environmental circumstances influencing tic expression in children.

scientific article published on 27 October 2013
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

scientific article published on 18 August 2007
Treatment of genetic defects of thiamine transport and metabolism

scientific article published on 18 May 2016
Novel features in the evolution of adenylosuccinate lyase deficiency

scientific article published on September 7, 2011
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

scientific article published on 6 July 2013
Clinical, etiological and therapeutic aspects of cerebral folate deficiency

scientific article published on 19 June 2015
Paroxysmal movement disorders and episodic ataxias.

scientific article published on January 2013
Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

scientific article
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

scientific article published on 22 March 2011
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

scientific article published on May 2, 2014
Neonatal Erythroderma as a First Manifestation of Menkes Disease

scientific article published on 18 June 2012
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.

scientific article published on 6 January 2010
Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

article
Cloperastine-based cough syrup and acute dystonic reactions.

scientific article published on March 2012
Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?

scientific article published on 01 March 2010
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

scientific article published on 17 July 2020
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

scientific article published on 27 October 2016

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