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List of works by Mercedes Serrano

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

scientific article published on 15 April 2013
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

scientific article published on 06 February 2013
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

scientific article published on 6 July 2012
Mitochondrial diseases mimicking neurotransmitter defects.

scientific article published on 21 May 2008
Cerebral Folate Deficiency Syndromes in Childhood

scientific article published on 01 May 2011
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

scientific article
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

scientific article published on 21 September 2010
Inborn errors of metabolism and motor disturbances in children

scientific article published on October 2009
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

scientific article published on 11 April 2010
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

scientific article published on 11 March 2013
Mental retardation and inborn errors of metabolism.

scientific article published on 14 August 2009
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
Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes

scientific article (publication date: 2013)
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

scientific article published on July 23, 2012
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

scientific article published on 01 January 2019
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging

scientific article published on 22 January 2009
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

scientific article published in June 2010
Levodopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks.

scientific article published in July 2008
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

article
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
Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

scientific article published on 25 May 2011
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

scientific article published on 24 March 2017
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

scientific article
Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome

scientific article published on December 2009
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

scientific article published on 27 January 2017
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

scientific article published on 03 April 2019
Clinical, etiological and therapeutic aspects of cerebral folate deficiency

scientific article published on 19 June 2015
Cerebellar hemorrhage in a patient with propionic acidemia

scientific article published on 26 May 2009
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

scientific article published on 22 March 2019
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

scientific article published on 13 October 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

scientific article published on 17 September 2018
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

scientific article published on 22 March 2011
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

article
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

scientific article published on 31 October 2014
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

scientific article
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

scientific article published on 08 April 2011
Retained central venous lines in the newborn: report of one case and systematic review of the literature.

scientific article published on March 2007
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

scientific article published on 15 September 2017
Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases

scientific article published on 01 April 2012
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

scientific article published on 22 February 2018
Cloperastine-based cough syrup and acute dystonic reactions.

scientific article published on March 2012
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

scientific article
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

scientific article published on 21 August 2012

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