List of works - Elisabetta Pasquini

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

scientific article

A genetic modifier of symptom onset in Pompe disease

scientific article published on 25 March 2019

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

scientific article published on 12 August 2006

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

scientific article published on 18 March 2015

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

scientific article published on 4 February 2008

Clinical profile and outcome of cardiac involvement in MELAS syndrome

scientific article published on 23 October 2018

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

scientific article

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

scientific article published in March 2011

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Correction to: Newborn screening in mucopolysaccharidoses.

scientific article published on 11 June 2019

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

scientific article published in February 2006

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

scientific article published on 01 December 2005

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Genetic Contributions to the Development of Complications in Preterm Newborns.

scientific article published on 14 July 2015

Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants

scientific article published on 13 June 2012

Genetic polymorphisms of antioxidant enzymes in preterm infants

scientific article published on 01 October 2012

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

scientific article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

scientific article

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples

scientific article published on 01 November 2006

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

scientific article published on 24 January 2018

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

scientific article published on 31 October 2013

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

scientific article

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

scientific article

Newborn screening in mucopolysaccharidoses

scientific article published on 16 November 2018

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

scientific article published on 14 July 2010

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients

scientific article published on 8 May 2017

Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?

scientific article published on 26 September 2007

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

scientific article published on 17 May 2007

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry

scientific article

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots

scientific article published on 13 December 2008

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

scientific article

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient

scientific article published on 6 August 2003

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

scientific article

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

scientific article published in December 2009

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

scientific article

Vein of Galen aneurysmal malformation and galactosemia in a neonate: a previously unreported association.

scientific article

List of works by Elisabetta Pasquini

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

A genetic modifier of symptom onset in Pompe disease

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

Clinical profile and outcome of cardiac involvement in MELAS syndrome

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Correction to: Newborn screening in mucopolysaccharidoses.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

Genetic Contributions to the Development of Complications in Preterm Newborns.

Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants

Genetic polymorphisms of antioxidant enzymes in preterm infants

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Newborn screening in mucopolysaccharidoses

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients

Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?

Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Vein of Galen aneurysmal malformation and galactosemia in a neonate: a previously unreported association.