List of works - Mercedes Serrano

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

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

article

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

scientific article published on 15 September 2017

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

scientific article published on 22 March 2019

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

scientific article published on 08 April 2011

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

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

scientific article

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging

scientific article published on 22 January 2009

Cerebellar hemorrhage in a patient with propionic acidemia

scientific article published on 26 May 2009

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

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)

Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome

scientific article published on December 2009

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

scientific article published on 31 October 2014

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

scientific article published on 10 October 2018

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

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

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

article

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

scientific article published on 24 October 2020

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

scientific article published on 28 July 2019

Environmental circumstances influencing tic expression in children.

scientific article published on 27 October 2013

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

scientific article

Expanding the phenotype of X-linked SSR4-CDG: connective tissue implications

scientific article published on 10 December 2020

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

scientific article published on 10 February 2020

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

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

article

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

scientific article published on 04 November 2019

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

scientific article published on July 23, 2012

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

scientific article published on 21 August 2012

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

scientific article published on 11 March 2013

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

scientific article published on 17 September 2018

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

scientific article published on 25 May 2011

Inborn errors of metabolism and motor disturbances in children

scientific article published on October 2009

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

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

scientific article published on 11 April 2010

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

scientific article published in July 2008

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

scientific article published on 06 February 2013

Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

scientific article published on 13 March 2020

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

Mental retardation and inborn errors of metabolism.

scientific article published on 14 August 2009

Mitochondrial diseases mimicking neurotransmitter defects.

scientific article published on 21 May 2008

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

scientific article

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

scientific article published on 14 August 2009

New and potential strategies for the treatment of PMM2-CDG

scientific article published on 23 July 2020

Okur-Chung neurodevelopmental syndrome in a patient from Spain

scientific article published on 15 November 2019

PERINATAL ASPHYXIA MAY CAUSE REDUCTION IN CSF DOPAMINE METABOLITE CONCENTRATIONS

scientific article published on 01 July 2007

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

scientific article published on 13 October 2018

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

scientific article

Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

scientific article published on 05 March 2020

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

scientific article published on 21 September 2010

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

scientific article

Rare CACNA1A mutations leading to congenital ataxia

scientific article published on 26 May 2020

Retained central venous lines in the newborn: report of one case and systematic review of the literature.

scientific article published on March 2007

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

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

scientific article published on 22 February 2018

Thiamine transporter-2 deficiency: outcome and treatment monitoring

scientific article

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

scientific article published in June 2010

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

scientific article published on 12 April 2022

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases]

scientific article published on 01 April 2012

List of works by Mercedes Serrano

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

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

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

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

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging

Cerebellar hemorrhage in a patient with propionic acidemia

Cerebral Folate Deficiency Syndromes in Childhood

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

Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processes

Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

Cloperastine-based cough syrup and acute dystonic reactions.

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

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

Environmental circumstances influencing tic expression in children.

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

Expanding the phenotype of X-linked SSR4-CDG: connective tissue implications

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

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

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

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

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

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

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

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

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

Inborn errors of metabolism and motor disturbances in children

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

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

Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).

Mental retardation and inborn errors of metabolism.

Mitochondrial diseases mimicking neurotransmitter defects.

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

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

New and potential strategies for the treatment of PMM2-CDG

Okur-Chung neurodevelopmental syndrome in a patient from Spain

PERINATAL ASPHYXIA MAY CAUSE REDUCTION IN CSF DOPAMINE METABOLITE CONCENTRATIONS

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

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

Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

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

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients

Rare CACNA1A mutations leading to congenital ataxia

Retained central venous lines in the newborn: report of one case and systematic review of the literature.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

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

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Thiamine transporter-2 deficiency: outcome and treatment monitoring

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases]