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List of works by BELEN PEREZ DUEÑAS

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.

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

Cerebral Folate Deficiency Syndromes in Childhood

scientific article published on 01 May 2011

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders.

scientific article

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

scientific article

Characterization of tremor in phenylketonuric patients.

scientific article published on 5 July 2005

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

scientific article published on 22 July 2005

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

Cloperastine-based cough syrup and acute dystonic reactions.

scientific article published on March 2012

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

scientific article published on 27 October 2016

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

scientific article published on 18 August 2007

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

scientific article published on 17 July 2020

Delineation of the movement disorders associated withFOXG1mutations: Table 1

scientific article

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

scientific article

Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.

scientific article published on 6 November 2008

Environmental circumstances influencing tic expression in children.

scientific article published on 27 October 2013

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

scientific article published on 22 March 2011

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

scientific article published on 10 December 2015

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

scientific article published on 11 February 2016

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

scientific article

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects ⬇️

scientific article published on July 23, 2012

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

article

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

scientific article published on 11 March 2013

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

scientific article published in May 2012

Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

scientific article published on 27 October 2005

Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

scientific article published in July 2008

Ndufs4 related Leigh syndrome: A case report and review of the literature.

scientific article published on 11 April 2016

Neonatal Erythroderma as a First Manifestation of Menkes Disease

scientific article published on 18 June 2012

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

scientific article published on 14 August 2009

Novel features in the evolution of adenylosuccinate lyase deficiency ⬇️

scientific article published on September 7, 2011

Paroxysmal movement disorders and episodic ataxias.

scientific article published on January 2013

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

scientific article

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

scientific article published on 6 July 2012

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

scientific article published on 15 April 2013

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

scientific article published on 30 June 2016

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

scientific article published in December 2004

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism.

scientific article published on 6 January 2010

Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article

Treatment of genetic defects of thiamine transport and metabolism

scientific article published on 18 May 2016

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

scientific article

[Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?]

scientific article published on 01 March 2010

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