Lista de obras -

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

artículo científico publicado en 2012

A genetic modifier of symptom onset in Pompe disease

artículo científico publicado en 2019

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Clinical profile and outcome of cardiac involvement in MELAS syndrome

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Correction to: Newborn screening in mucopolysaccharidoses.

artículo científico publicado en 2019

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

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

artículo científico publicado en 2006

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Genetic Contributions to the Development of Complications in Preterm Newborns.

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Lista de obras de

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.